MSUD
MCID: MPL001
MIFTS: 69

Maple Syrup Urine Disease (MSUD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Maple Syrup Urine Disease

MalaCards integrated aliases for Maple Syrup Urine Disease:

Name: Maple Syrup Urine Disease 57 11 24 19 42 58 75 73 28 53 5 43 14 38 71
Bckd Deficiency 57 24 19 42 58 73
Msud 57 24 19 42 58 73
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 57 19 42 73 33
Branched-Chain Ketoaciduria 57 19 42 58 73
Intermittent Maple Syrup Urine Disease 58 73 71
Keto Acid Decarboxylase Deficiency 57 19 73
Maple Syrup Urine Disease, Type Ii 57 12 71
Classic Maple Syrup Urine Disease 58 73 71
Branched Chain Ketoaciduria 11 19 33
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 19 58
Thiamine-Responsive Maple Syrup Urine Disease 58 73
Intermediate Maple Syrup Urine Disease 73 71
Maple Syrup Urine Disease, Type Ia 57 71
Maple Syrup Urine Disease Type 1a 28 5
Maple Syrup Urine Disease Type 1b 28 5
Maple Syrup Urine Disease Type 2 28 5
Bckdh Deficiency 19 58
Ketoacidaemia 11 33
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 58
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 58
Bckd - [branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] 33
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 58
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 71
Branched-Chain Ketoacid Dehydrogenase Deficiency 24
Branched Chain Ketoacid Dehydrogenase Deficiency 33
Dihydrolipoamide Dehydrogenase Deficiency 11
Nadh Cytochrome B5 Reductase Deficiency 71
Classic Branched-Chain Ketoaciduria 58
Thiamine-Responsive Bckd Deficiency 58
Maple Syrup Urine Disease, Type Ib 57
Maple Syrup Urine Disease, Type 1b 71
Msud - [maple-Syrup-Urine Disease] 33
Maple Syrup Urine Disease Type Ia 73
Maple Syrup Urine Disease Type Ib 73
Maple Syrup Urine Disease Type Ii 73
Ketoacid Decarboxylase Deficiency 33
Oxoacid Decarboxylase Deficiency 33
Intermittent Bckd Deficiency 58
Maple Syrup Urine Disease 1a 73
Maple Syrup Urine Disease 1b 73
Maple Syrup Urine Disease 2 73
Maple-Syrup-Urine Disorder 33
Maple-Syrup-Urine Syndrome 33
Thiamine-Responsive Msud 58
Classic Bckd Deficiency 58
Maple Syrup Disease 24
Ketoaminoacidaemia 33
Intermittent Msud 58
Ketoacidemia 42
Classic Msud 58
Msud Type Ia 73
Msud Type Ib 73
Msud Type Ii 73
Ketonemia 71
Msud1a 73
Msud1b 73
Msud2 73

Characteristics:


Inheritance:

Maple Syrup Urine Disease: Autosomal recessive 58 57
Classic Maple Syrup Urine Disease: Autosomal recessive 58
Thiamine-Responsive Maple Syrup Urine Disease: Autosomal recessive 58
Intermittent Maple Syrup Urine Disease: Autosomal recessive 58

Prevelance:

1-9/1000000 (Worldwide, United States, Italy, Japan, Australia, Taiwan, Province of China, Europe, China, Czech Republic) 1-9/100000 (Tunisia, Portugal, Israel) 1-5/10000 (Specific population) 58

Age Of Onset:

Maple Syrup Urine Disease: Childhood,Infancy,Neonatal 58
Classic Maple Syrup Urine Disease: Neonatal 58
Thiamine-Responsive Maple Syrup Urine Disease: Infancy 58
Intermittent Maple Syrup Urine Disease: Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
five clinical variants of msud unassociated with genotype
(1) classic severe (onset of symptoms 4 to 7 days of age)
(2) intermittent
(3) intermediate
(4) thiamine-responsive form
(5) dihydrolipoyl dehydrogenase (e3)-deficient
worldwide incidence of 1 in 185,000 live births
in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns
death in untreated children


HPO:

30
maple syrup urine disease:
Onset and clinical course recurrent


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:9269
OMIM® 57 248600
OMIM Phenotypic Series 57 PS248600
MeSH 43 D008375
NCIt 49 C34806
SNOMED-CT 68 27718001
ICD10 31 E71.0
MESH via Orphanet 44 D008375
ICD10 via Orphanet 32 E71.0
UMLS via Orphanet 72 C0024776 C0268568 C0268569 more
ICD11 33 1623706568
UMLS 71 C0024776 C0235430 C0268193 more

Summaries for Maple Syrup Urine Disease

UniProtKB/Swiss-Prot 73 Maple syrup urine disease: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

Maple syrup urine disease 2: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

Maple syrup urine disease 1a: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

Maple syrup urine disease 1b: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

MalaCards based summary: Maple Syrup Urine Disease, also known as bckd deficiency, is related to dihydrolipoamide dehydrogenase deficiency and intermediate maple syrup urine disease, and has symptoms including ataxia, vomiting and headache. An important gene associated with Maple Syrup Urine Disease is BCKDHA (Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Dapagliflozin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, and related phenotypes are intellectual disability and seizure

Orphanet 58 Maple syrup urine disease: A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.

Classic maple syrup urine disease: Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

Intermittent maple syrup urine disease: Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.

Thiamine-responsive maple syrup urine disease: Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.

GARD: 19 Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage. There are several forms of MSUD. The most common is the classic or infantile form. Symptoms of the classic form of MSUD start in early infancy and include poor feeding, irritability, extra sleepiness, and muscle spasms. The earwax and urine of infants with MSUD smells like maple syrup. The symptoms of other forms of MSUD start in adolescence or adulthood. MSUD is caused by genetic variants in the BCKDHA, BCKDHB, or DBT genes. It is inherited in an autosomal recessive pattern. Diagnosis of MSUD is based on the symptoms, clinical exam, and blood and urine testing. MSUD is often diagnosed based on the results of a newborn screening test.

MedlinePlus Genetics: 42 Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.

OMIM®: 57 The major clinical features of maple syrup urine disease are mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. There are 5 clinical subtypes of MSUD: the 'classic' neonatal severe form, an 'intermediate' form, an 'intermittent' form, a 'thiamine-responsive' form, and an 'E3-deficient with lactic acidosis' form (246900). All of these subtypes can be caused by mutations in any of the 4 genes mentioned above, except for the E3-deficient form, which is caused only by mutation in the E3 gene (Chuang and Shih, 2001). (248600) (Updated 08-Dec-2022)

Disease Ontology: 11 An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.

Wikipedia: 75 Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain... more...

GeneReviews: NBK1319

Related Diseases for Maple Syrup Urine Disease

Diseases in the Maple Syrup Urine Disease family:

Intermediate Maple Syrup Urine Disease

Diseases related to Maple Syrup Urine Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 229)
# Related Disease Score Top Affiliating Genes
1 dihydrolipoamide dehydrogenase deficiency 33.6 DLD BCKDHB
2 intermediate maple syrup urine disease 33.3 PPM1K DBT BCKDHB BCKDHA
3 amino acid metabolic disorder 32.4 OTC BTD BCKDHB BCKDHA ALB
4 abdominal obesity-metabolic syndrome 1 31.6 OTC HADHA BTD
5 phenylketonuria 31.4 SLC7A5 QDPR OTC HADHA BTD ALB
6 metabolic acidosis 31.3 OGDH HMGCL BTD ALB
7 hypoglycemia 31.3 HMGCL HADHA GLUD1 ALB
8 brain edema 31.2 OTC GFAP ALB
9 tyrosinemia 31.0 QDPR OTC BTD
10 urea cycle disorder 31.0 OTC HADHA ALB
11 homocystinuria 31.0 OTC HMGCL HADHA BTD ALB
12 acrodermatitis 31.0 OTC ALB
13 organic acidemia 30.9 PPM1K HMGCL BTD BCKDK BCKDHB BCKDHA
14 methylmalonic acidemia 30.8 OTC HMGCL HADHA BCKDHB BCKDHA
15 propionic acidemia 30.7 OTC HMGCL HADHA BTD BCKDK BCKDHB
16 glutaric acidemia i 30.7 HADHA BTD BCKDHA
17 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 30.7 HMGCL HADHA
18 primary biliary cholangitis 30.7 OGDH DLD DBT ALB
19 acyl-coa dehydrogenase, medium-chain, deficiency of 30.7 HMGCL HADHA BTD
20 citrullinemia, classic 30.6 OTC HMGCL HADHA
21 3-methylcrotonyl-coa carboxylase deficiency 30.6 HMGCL HADHA BTD BCKDK
22 lactic acidosis 30.5 OGDH HADHA DLD BTD ALB
23 maple syrup urine disease, mild variant 12.1
24 inherited metabolic disorder 10.9
25 encephalopathy 10.8
26 ocular motor apraxia 10.8
27 disorder of branched-chain amino acid metabolism 10.8
28 hypotonia 10.6
29 acrodermatitis enteropathica, zinc-deficiency type 10.6
30 glioma susceptibility 1 10.6
31 toxic encephalopathy 10.6
32 glioma 10.5
33 attention deficit-hyperactivity disorder 10.5
34 kearns-sayre syndrome 10.5
35 cerebral palsy 10.5
36 dystonia 10.5
37 glial tumor 10.5
38 classic phenylketonuria 10.5
39 epstein-barr virus hepatitis 10.4 BCKDHB BCKDHA
40 anxiety 10.4
41 gastroenteritis 10.4
42 movement disease 10.4
43 nutritional deficiency disease 10.4
44 spasticity 10.4
45 cork-handlers' disease 10.4 DLD ALB
46 charcot-marie-tooth disease, axonal, type 2q 10.4 OGDH DLD
47 charcot-marie-tooth disease, x-linked dominant, 6 10.4 DLD BCKDK
48 alpha-aminoadipic and alpha-ketoadipic aciduria 10.3 OGDH DLD
49 blind loop syndrome 10.3 OTC ALB
50 down syndrome 10.3

Graphical network of the top 20 diseases related to Maple Syrup Urine Disease:



Diseases related to Maple Syrup Urine Disease

Symptoms & Phenotypes for Maple Syrup Urine Disease

Human phenotypes related to Maple Syrup Urine Disease:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
3 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
4 respiratory insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002093
5 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
6 reduced tendon reflexes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001315
7 abnormality of the voice 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001608
8 abnormality of the pharynx 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000600
9 elevated plasma branched chain amino acids 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008344
10 ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001251
11 hemiplegia/hemiparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004374
12 hallucinations 30 HP:0000738
13 hypertonia 30 HP:0001276
14 feeding difficulties in infancy 30 HP:0008872
15 vomiting 30 HP:0002013
16 hypoglycemia 30 HP:0001943
17 lethargy 30 HP:0001254
18 lactic acidosis 30 HP:0003128
19 coma 30 HP:0001259
20 generalized hypotonia 30 HP:0001290
21 pancreatitis 30 HP:0001733
22 cerebral edema 30 HP:0002181
23 growth abnormality 30 HP:0001507
24 ketosis 30 HP:0001946
25 increased level of hippuric acid in urine 30 HP:0410066
26 elevated circulating l-alloisoleucine concentration 30 HP:0033155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
ataxia
hypotonia
hallucinations
hypertonia
lethargy
more
Metabolic Features:
hypoglycemia
ketosis
life-threatening metabolic decompensation
lactic acidosis in e3-deficiency

Laboratory Abnormalities:
elevated plasma branched chain amino acids (leucine, isoleucine, valine)
maple syrup urine odor
branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)
elevated plasma alloisoleucine
positive urine dnph screening test

Abdomen Gastrointestinal:
vomiting
feeding problems

Abdomen Pancreas:
pancreatitis

Clinical features from OMIM®:

248600 (Updated 08-Dec-2022)

UMLS symptoms related to Maple Syrup Urine Disease:


ataxia; vomiting; headache; lethargy; cyanosis; seizures; dyspnea on exertion

GenomeRNAi Phenotypes related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ALB BCAT2 BCKDHA BCKDHB BCKDK BTD
2 no effect GR00402-S-2 10.15 ALB BCAT2 BCKDHB BTD CAT DBT

MGI Mouse Phenotypes related to Maple Syrup Urine Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.89 ALB BCAT2 BCKDHA BCKDK BTD CAT
2 mortality/aging MP:0010768 9.55 ALB BCAT2 BCKDHA BCKDHB BCKDK CAT

Drugs & Therapeutics for Maple Syrup Urine Disease

Drugs for Maple Syrup Urine Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dapagliflozin Approved Phase 4 461432-26-8 9887712
2 Insulin, Globin Zinc Phase 4
3
Insulin Phase 4
4 Hormones Phase 4
5
Sitagliptin Phosphate Phase 4 654671-77-9
6 Hormone Antagonists Phase 4
7 HIV Protease Inhibitors Phase 4
8 Sodium-Glucose Transporter 2 Inhibitors Phase 4
9 Hypoglycemic Agents Phase 4
10 Dipeptidyl-Peptidase IV Inhibitors Phase 4
11 Incretins Phase 4
12
protease inhibitors Phase 4
13 4-phenylbutyric acid Phase 2, Phase 3
14
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
15
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
17
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
18 Folate Phase 2
19 Vitamins Phase 2
20 Vitamin B9 Phase 2
21 Vitamin B3 Phase 2
22 Trace Elements Phase 2
23 Nicotinic Acids Phase 2
24 Antimetabolites Phase 2
25 Vasodilator Agents Phase 2
26 Vitamin B Complex Phase 2
27 Hypolipidemic Agents Phase 2
28 Lipid Regulating Agents Phase 2
29 Micronutrients Phase 2
30
Caffeine Approved 58-08-2 2519
31
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
32
Tannic acid Approved 1401-55-4 16129878 16129778
33
Carbamide peroxide Approved 124-43-6
34
Ornithine Approved, Nutraceutical 3184-13-2, 70-26-8 6262
35
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental 461-06-3
36 Central Nervous System Stimulants
37 Neurotransmitter Agents
38 Phosphodiesterase Inhibitors
39 Olive
40 Tea

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Randomized Study to Evaluate the Metabolic Responses of Adding Dapagliflozin Versus Sitagliptin to Chinese Patients With Type 2 Diabetes Inadequately Controlled With Insulin Therapy (DISTINCTION Study) Completed NCT03959501 Phase 4 Dapagliflozin 10 mg;Sitagliptin 100mg
2 A Double-Blind, Randomized, Placebo-Controlled, Crossover Trial of Phenylbutyrate in the Treatment of Maple Syrup Urine Disease Completed NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
3 Ketone Administration in Patients With Pulmonary Hypertension - Effects on Hemodynamics Completed NCT04615754 Phase 2
4 Effects of Ketones and Niacin in Heart Failure Patients Completed NCT04703361 Phase 2
5 Effects of Ketones on Cardiac Function and Oxygen Consumption in Heart Failure Patients With Reduced Ejection Fraction and Healthy Test Subjects Completed NCT03073356 Phase 2
6 Modulation of Circulating Levels of the Ketone Body 3-hydroxybutyrate in Patients With Chronic Heart Failure: Cardiovascular Effects Active, not recruiting NCT04443426 Phase 2
7 Modulation of Circulating Levels of the Ketone Body 3-hydroxybutyrate in Patients With Type 2 Diabetes and Heart Failure With Preserved Ejection Fraction: Cardiovascular Effects. Not yet recruiting NCT05236335 Phase 2
8 Modulation of Circulating Levels of the Ketone Body 3-hydroxybutyrate in Patients With Type 2 Diabetes and Heart Failure With Preserved Ejection Fraction: Metabolic Effects. Not yet recruiting NCT05159570 Phase 2
9 KETOCOGNITION - Effects of Ketone Bodies on Cognition in Type 2 Diabetes Completed NCT03657537 Phase 1 Ketone infusion;Saline infusion
10 The Effect of Exogenous Ketone Supplementation on 20 km Time Trial and Wingate Performance in Recreationally Active Individuals Unknown status NCT03895892
11 Effect of Exogenous Ketone Supplementation on Cognitive Function During Exercise After Induced Mental Fatigue Unknown status NCT04576026
12 Effect of Ketone Supplementation on Glycogen Replenishment and Time Trial Performance Following Glycogen Lowering Exercise Unknown status NCT04004676
13 Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism Completed NCT04248062
14 Effects of Ketonemia and Glycemia Variations During Ketogenic and Mediterranean Weight Loss Diets on Appetite Levels, Executive Functions and Mood Completed NCT04086498
15 Optimisation of Acute Medium Chain Triglycerides Intake Characteristics on Different Plasma Metabolites in Young and Older Participants Completed NCT03830268
16 Systemic Biomarkers of Brain Injury From Hyperammonemia Recruiting NCT04602325
17 Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD) Recruiting NCT04828863
18 Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD). Recruiting NCT01659749
19 Ketonemia Through Menstrual Cycle Recruiting NCT05234411
20 Observational Study to Evaluate the Relationship Between Ketonemia and Renal Function in the Diabetic Patient Active, not recruiting NCT03859817

Search NIH Clinical Center for Maple Syrup Urine Disease

Cochrane evidence based reviews: maple syrup urine disease

Genetic Tests for Maple Syrup Urine Disease

Genetic tests related to Maple Syrup Urine Disease:

# Genetic test Affiliating Genes
1 Maple Syrup Urine Disease Type 1a 28
2 Maple Syrup Urine Disease 28 BCKDHA BCKDHB DBT
3 Maple Syrup Urine Disease Type 1b 28 BCKDHB
4 Maple Syrup Urine Disease Type 2 28

Anatomical Context for Maple Syrup Urine Disease

Organs/tissues related to Maple Syrup Urine Disease:

MalaCards : Brain, Heart, Liver, Cortex, Whole Blood, Skin, Spinal Cord

Publications for Maple Syrup Urine Disease

Articles related to Maple Syrup Urine Disease:

(show top 50) (show all 1380)
# Title Authors PMID Year
1
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. 53 62 24 57 5
17922217 2007
2
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. 62 24 57 5
18378174 2008
3
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. 62 24 57 5
14742428 2004
4
Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. 62 24 57 5
14567968 2003
5
Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. 62 24 57 5
11509994 2001
6
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. 53 62 57 5
9621512 1998
7
Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. 53 62 57 5
8037208 1994
8
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. 53 62 57 5
1847055 1991
9
Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. 62 57 5
19456321 2009
10
Mutational spectrum of maple syrup urine disease in Spain. 53 62 24 5
16786533 2006
11
Gene preference in maple syrup urine disease. 62 57 5
11112664 2001
12
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. 62 57 5
7883996 1995
13
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. 62 57 5
2022752 1991
14
Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1. 62 57 5
1990841 1991
15
Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. 62 57 5
1943689 1991
16
A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients. 62 57 5
2241958 1990
17
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. 62 57 5
2703538 1989
18
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. 62 24 5
31980395 2020
19
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. 62 24 5
30228974 2018
20
Movement disorders in adult surviving patients with maple syrup urine disease. 62 24 5
21484869 2011
21
Phenylbutyrate therapy for maple syrup urine disease. 62 24 5
21098507 2011
22
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. 62 24 5
20431954 2010
23
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. 62 24 5
20570198 2010
24
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. 62 24 5
20307994 2010
25
Elective liver transplantation for the treatment of classical maple syrup urine disease. 62 24 5
16468966 2006
26
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. 62 24 5
14517957 2003
27
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. 62 24 5
12888983 2003
28
Diagnosis and treatment of maple syrup disease: a study of 36 patients. 62 24 57
12042535 2002
29
Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease. 62 24 57
11328944 2001
30
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. 62 24 57
11196106 2000
31
4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease. 62 24 57
10234605 1999
32
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. 62 24 57
1481826 1992
33
Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease. 62 24 5
1547285 1992
34
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. 62 24 5
1867199 1991
35
Molecular genetics of maple syrup urine disease in the Turkish population. 53 62 5
19480318 2009
36
Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination. 53 62 5
14508502 2003
37
A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online. 53 62 5
10694918 1998
38
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations. 53 62 5
8430702 1993
39
Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region. 53 62 5
2010537 1991
40
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population. 62 5
34556729 2021
41
Pregnancy in an adolescent with maple syrup urine disease: Case report. 62 5
33868929 2021
42
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland. 62 5
33300147 2021
43
Genotype-phenotype correlation of 33 patients with maple syrup urine disease. 62 5
32812330 2020
44
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity. 62 5
33131499 2020
45
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease. 62 5
32193832 2020
46
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease. 62 5
32515140 2020
47
An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene. 62 5
31610500 2019
48
Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations. 62 5
31119508 2019
49
Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening. 62 5
31112740 2019
50
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. 62 5
31523617 2019

Variations for Maple Syrup Urine Disease

ClinVar genetic disease variations for Maple Syrup Urine Disease:

5 (show top 50) (show all 1359)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCKDHA NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) SNV Pathogenic
2382 rs137852876 GRCh37: 19:41928214-41928214
GRCh38: 19:41422309-41422309
2 DBT NM_001918.5(DBT):c.1017+1del DEL Pathogenic
11945 rs796052134 GRCh37: 1:100676249-100676249
GRCh38: 1:100210693-100210693
3 DBT NM_001918.3(DBT):c.1282-4142_*(434_435)del DEL Pathogenic
11951 GRCh37: 1:100661376-100666120
GRCh38: 1:100195820-100200564
4 DBT NM_001918.5(DBT):c.581C>G (p.Ser194Ter) SNV Pathogenic
11953 rs121965003 GRCh37: 1:100681730-100681730
GRCh38: 1:100216174-100216174
5 DBT NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) SNV Pathogenic
224073 rs869312132 GRCh37: 1:100672177-100672177
GRCh38: 1:100206621-100206621
6 BCKDHA NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln) SNV Pathogenic
204378 rs773048903 GRCh37: 19:41920054-41920054
GRCh38: 19:41414149-41414149
7 BCKDHB NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn) SNV Pathogenic
224060 rs869312130 GRCh37: 6:80877452-80877452
GRCh38: 6:80167735-80167735
8 BCKDHA NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) SNV Pathogenic
204380 rs869312125 GRCh37: 19:41920048-41920048
GRCh38: 19:41414143-41414143
9 BCKDHB NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile) SNV Pathogenic
224057 rs869312128 GRCh37: 6:80816413-80816413
GRCh38: 6:80106696-80106696
10 BCKDHB NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) SNV Pathogenic
224055 rs148905512 GRCh37: 6:80878668-80878668
GRCh38: 6:80168951-80168951
11 BCKDHA NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) SNV Pathogenic
204377 rs869312124 GRCh37: 19:41928266-41928266
GRCh38: 19:41422361-41422361
12 BCKDHB NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala) SNV Pathogenic
224061 rs869312131 GRCh37: 6:80982864-80982864
GRCh38: 6:80273147-80273147
13 BCKDHB NM_183050.4(BCKDHB):c.197-2A>G SNV Pathogenic
224056 rs869312127 GRCh37: 6:80837262-80837262
GRCh38: 6:80127545-80127545
14 BCKDHA NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) DEL Pathogenic
203638 rs796051938 GRCh37: 19:41928081-41928084
GRCh38: 19:41422176-41422179
15 BCKDHA NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs) INDEL Pathogenic
374929 rs1057519059 GRCh37: 19:41919977-41919977
GRCh38: 19:41414072-41414072
16 DBT NC_000001.11:g.(?_100196235)_(100196442_?)del DEL Pathogenic
457141 GRCh37: 1:100661791-100661998
GRCh38: 1:100196235-100196442
17 DBT NM_001918.5(DBT):c.663_670del (p.Lys222fs) DEL Pathogenic
623328 rs748851630 GRCh37: 1:100681641-100681648
GRCh38: 1:100216085-100216092
18 BCKDHA NM_000709.4(BCKDHA):c.554del (p.Leu185fs) DEL Pathogenic
623332 rs1568506608 GRCh37: 19:41925108-41925108
GRCh38: 19:41419203-41419203
19 BCKDHA NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) SNV Pathogenic
623384 rs1568503938 GRCh37: 19:41916871-41916871
GRCh38: 19:41410966-41410966
20 DBT NM_001918.5(DBT):c.898del (p.Ala300fs) DEL Pathogenic
635310 rs1570816218 GRCh37: 1:100680414-100680414
GRCh38: 1:100214858-100214858
21 BCKDHB NM_183050.4(BCKDHB):c.70_71insTTCCTGGCAGGGGCTGAGGA (p.Arg24delinsLeuProGlyArgGlyTer) INSERT Pathogenic
653956 rs1582146989 GRCh37: 6:80816480-80816481
GRCh38: 6:80106763-80106764
22 DBT NM_001918.5(DBT):c.1082dup (p.Asn361fs) DUP Pathogenic
801528 rs1570806631 GRCh37: 1:100672127-100672128
GRCh38: 1:100206571-100206572
23 DBT NC_000001.11:g.(?_100240751)_(100240894_?)del DEL Pathogenic
830385 GRCh37: 1:100706307-100706450
GRCh38:
24 BCKDHB NC_000006.12:g.(?_80106674)_(80106909_?)del DEL Pathogenic
832004 GRCh37: 6:80816391-80816626
GRCh38:
25 DBT NM_001918.5(DBT):c.252G>T (p.Trp84Cys) SNV Pathogenic
977617 rs200638406 GRCh37: 1:100696470-100696470
GRCh38: 1:100230914-100230914
26 DBT NM_001918.5(DBT):c.1209+1G>A SNV Pathogenic
977618 rs1661795778 GRCh37: 1:100672000-100672000
GRCh38: 1:100206444-100206444
27 BCKDHA NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) SNV Pathogenic
982806 rs1468416468 GRCh37: 19:41928162-41928162
GRCh38: 19:41422257-41422257
28 BCKDHB NC_000006.11:g.(?_80816391)_(81053541_?)del DEL Pathogenic
1070281 GRCh37: 6:80816391-81053541
GRCh38:
29 DBT NM_001918.5(DBT):c.52-1G>C SNV Pathogenic
1322190 GRCh37: 1:100706441-100706441
GRCh38: 1:100240885-100240885
30 BCKDHB NM_183050.4(BCKDHB):c.633+1G>T SNV Pathogenic
Pathogenic/Likely Pathogenic
553536 rs398124589 GRCh37: 6:80878748-80878748
GRCh38: 6:80169031-80169031
31 BCKDHA NM_000709.4(BCKDHA):c.78del (p.Gln27fs) DEL Pathogenic
1324386 GRCh37: 19:41903809-41903809
GRCh38: 19:41397904-41397904
32 BCKDHA NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) INDEL Pathogenic
1325805 GRCh37: 19:41928195-41928196
GRCh38: 19:41422290-41422291
33 BCKDHA NM_000709.4(BCKDHA):c.14del (p.Ile5fs) DEL Pathogenic
93349 rs398123494 GRCh37: 19:41903746-41903746
GRCh38: 19:41397841-41397841
34 DBT NM_001918.5(DBT):c.143_146dup (p.His49fs) DUP Pathogenic
1354525 GRCh37: 1:100706345-100706346
GRCh38: 1:100240789-100240790
35 DBT NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer) DEL Pathogenic
1394661 GRCh37: 1:100701001-100701002
GRCh38: 1:100235445-100235446
36 BCKDHA NC_000019.9:g.(?_41903723)_(41916924_?)del DEL Pathogenic
1406283 GRCh37: 19:41903723-41916924
GRCh38:
37 DBT NM_001918.5(DBT):c.29G>A (p.Trp10Ter) SNV Pathogenic
1395522 GRCh37: 1:100715348-100715348
GRCh38: 1:100249792-100249792
38 BCKDHA NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter) SNV Pathogenic
1395580 GRCh37: 19:41928935-41928935
GRCh38: 19:41423030-41423030
39 BCKDHB NM_183050.4(BCKDHB):c.525dup (p.Asn176Ter) DUP Pathogenic
1413124 GRCh37: 6:80878634-80878635
GRCh38: 6:80168917-80168918
40 DBT NM_001918.5(DBT):c.762del (p.Glu254fs) DEL Pathogenic
1455526 GRCh37: 1:100681549-100681549
GRCh38: 1:100215993-100215993
41 DBT NM_001918.5(DBT):c.1195del (p.Ser399fs) DEL Pathogenic
1458115 GRCh37: 1:100672015-100672015
GRCh38: 1:100206459-100206459
42 BCKDHA NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer) MICROSAT Pathogenic
1455786 GRCh37: 19:41916894-41916895
GRCh38: 19:41410989-41410990
43 BCKDHA NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter) SNV Pathogenic
1456714 GRCh37: 19:41903765-41903765
GRCh38: 19:41397860-41397860
44 BCKDHB NM_183050.4(BCKDHB):c.25_35dup (p.Arg13fs) DUP Pathogenic
1418173 GRCh37: 6:80816434-80816435
GRCh38: 6:80106717-80106718
45 BCKDHA NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer) DEL Pathogenic
1423652 GRCh37: 19:41928085-41928085
GRCh38: 19:41422180-41422180
46 BCKDHB NC_000006.11:g.(?_80816411)_(80816626_?)del DEL Pathogenic
1459691 GRCh37: 6:80816411-80816626
GRCh38:
47 BCKDHB NC_000006.11:g.(?_80816317)_(80838956_?)del DEL Pathogenic
1459386 GRCh37: 6:80816317-80838956
GRCh38:
48 DBT NM_001918.5(DBT):c.113_114del (p.Cys38fs) MICROSAT Pathogenic
1397613 GRCh37: 1:100706378-100706379
GRCh38: 1:100240822-100240823
49 BCKDHB NM_183050.4(BCKDHB):c.272del (p.Ala91fs) DEL Pathogenic
1430401 GRCh37: 6:80837339-80837339
GRCh38: 6:80127622-80127622
50 DBT NM_001918.5(DBT):c.304C>T (p.Gln102Ter) SNV Pathogenic
1458060 GRCh37: 1:100696418-100696418
GRCh38: 1:100230862-100230862

UniProtKB/Swiss-Prot genetic disease variations for Maple Syrup Urine Disease:

73 (show all 19)
# Symbol AA change Variation ID SNP ID
1 BCKDHA p.Arg159Trp VAR_004968 rs769688327
2 BCKDHA p.Gln190Lys VAR_004969
3 BCKDHA p.Ala253Thr VAR_004970 rs199599175
4 BCKDHA p.Ile326Thr VAR_004971
5 BCKDHA p.Tyr413Cys VAR_004972
6 BCKDHA p.Tyr438Asn VAR_004973 rs137852870
7 BCKDHA p.Gly290Arg VAR_015101 rs137852871
8 BCKDHA p.Phe409Cys VAR_015102 rs137852872
9 BCKDHA p.Thr211Met VAR_069748 rs398123503
10 BCKDHA p.Ala220Val VAR_069749 rs375785084
11 BCKDHA p.Arg346Cys VAR_069750 rs182923857
12 BCKDHB p.His206Arg VAR_004974
13 BCKDHB p.Arg183Pro VAR_024851 rs79761867
14 BCKDHB p.Gly278Ser VAR_024852 rs386834233
15 BCKDHB p.Arg170His VAR_068348 rs371518124
16 BCKDHB p.Gln346Arg VAR_068349
17 DBT p.Phe276Cys VAR_004978 rs121964999
18 DBT p.Ile98Met VAR_015099 rs121965001
19 DBT p.Gly384Ser VAR_015100 rs12021720

Expression for Maple Syrup Urine Disease

Search GEO for disease gene expression data for Maple Syrup Urine Disease.

Pathways for Maple Syrup Urine Disease

Pathways related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 ALB BCAT2 BCKDHA BCKDHB BCKDK BTD
2
Show member pathways
12.35 SLC7A5 QDPR PPM1K OTC OGDH HIBADH
3 12.34 SLC7A5 GLUD1 DLST CAT BCAT2
4
Show member pathways
11.85 OTC OGDH HMGCL HIBADH GLUD1 DLST
5
Show member pathways
11.74 OGDH DLST DLD
6
Show member pathways
11.68 PPM1K HMGCL HIBADH HADHA DLD DBT
7
Show member pathways
11.64 OGDH DLST DLD
8
Show member pathways
11.61 DLD DBT BCKDHB BCKDHA
9 11.6 OGDH DLST DLD
10 11.39 BCAT2 BCKDHA DLD GLUD1 SLC7A5
11
Show member pathways
11.31 OGDH DLST DLD DBT BCKDHB BCKDHA
12
Show member pathways
10.76 OGDH DLST DLD
13 10.38 OGDH BCKDK

GO Terms for Maple Syrup Urine Disease

Cellular components related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 10.33 BCAT2 BCKDHA BCKDHB BCKDK CAT DBT
2 mitochondrial matrix GO:0005759 9.77 PPM1K OTC OGDH HMGCL HIBADH GLUD1
3 oxoglutarate dehydrogenase complex GO:0045252 9.73 OGDH DLST DLD
4 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 9.65 BCKDHA BCKDHB BCKDK DBT DLD
5 oxidoreductase complex GO:1990204 9.32 DLST DBT

Biological processes related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to insulin GO:0032868 9.8 OTC HADHA CAT
2 succinyl-CoA metabolic process GO:0006104 9.56 OGDH DLST
3 amino acid metabolic process GO:0006520 9.46 QDPR OTC GLUD1
4 histone succinylation GO:0106077 9.43 OGDH DLST DLD
5 branched-chain amino acid catabolic process GO:0009083 9.4 HIBADH DLD DBT BCKDK BCKDHB BCKDHA

Molecular functions related to Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.55 HMGCL HIBADH HADHA BCKDHB BCAT2
2 oxidoreductase activity GO:0016491 9.28 QDPR OGDH HIBADH HADHA GLUD1 DLD
3 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor GO:0016624 9.26 OGDH BCKDHA
4 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.26 BCKDHB BCKDHA

Sources for Maple Syrup Urine Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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