MSUD
MCID: MPL001
MIFTS: 66

Maple Syrup Urine Disease (MSUD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Maple Syrup Urine Disease

MalaCards integrated aliases for Maple Syrup Urine Disease:

Name: Maple Syrup Urine Disease 57 12 76 24 53 25 59 75 37 29 55 6 44 15 40 73
Bckd Deficiency 57 24 53 25 59 75
Msud 57 24 53 25 59 75
Branched-Chain Ketoaciduria 57 24 25 59 75
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 57 53 25 75
Intermittent Maple Syrup Urine Disease 59 75 73
Keto Acid Decarboxylase Deficiency 57 53 75
Maple Syrup Urine Disease, Type Ii 57 13 73
Maple Syrup Urine Disease Type 1a 53 29 6
Maple Syrup Urine Disease Type 1b 53 29 6
Classic Maple Syrup Urine Disease 59 75 73
Maple Syrup Urine Disease Type 2 53 29 6
Thiamine-Responsive Maple Syrup Urine Disease 59 75
Intermediate Maple Syrup Urine Disease 75 73
Maple Syrup Urine Disease, Type Ia 57 73
Branched Chain Ketoaciduria 12 53
Msud Type Ib 53 75
Msud2 53 75
Msud Due to Deficiency of E1-Beta Subunit of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 53
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 59
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 59
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 59
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 73
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 59
Branched-Chain Ketoacid Dehydrogenase Deficiency 24
Dihydrolipoamide Dehydrogenase Deficiency 12
Nadh Cytochrome B5 Reductase Deficiency 73
Classic Branched-Chain Ketoaciduria 59
Thiamine-Responsive Bckd Deficiency 59
Classical Maple Syrup Urine Disease 29
Maple Syrup Urine Disease, Type Ib 57
Maple Syrup Urine Disease, Type 1b 73
Maple Syrup Urine Disease Type Ia 75
Maple Syrup Urine Disease Type Ib 75
Maple Syrup Urine Disease Type Ii 75
Intermittent Bckd Deficiency 59
Maple Syrup Urine Disease 1a 75
Maple Syrup Urine Disease 1b 75
Maple Syrup Urine Disease 2 75
Thiamine-Responsive Msud 59
Classic Bckd Deficiency 59
Maple Syrup Disease 24
Intermittent Msud 59
Bckdh Deficiency 59
Ketoacidaemia 12
Msud Type 1a 53
Ketoacidemia 25
Classic Msud 59
Msud Type Ia 75
Msud Type Ii 75
Msud Type 2 53
Ketonemia 73
Msud1a 75
Msud1b 75

Characteristics:

Orphanet epidemiological data:

59
maple syrup urine disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Italy),1-9/100000 (Tunisia),1-9/1000000 (Japan),1-9/100000 (Portugal),1-9/1000000 (Australia),1-9/1000000 (Taiwan, Province of China); Age of onset: Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,late childhood;
classic maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: any age;
thiamine-responsive maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Infancy;
intermittent maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

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:

32
maple syrup urine disease:
Inheritance autosomal recessive inheritance
Onset and clinical course recurrent


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Maple Syrup Urine Disease

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Maple Syrup Urine Disease, also known as bckd deficiency, is related to intermediate maple syrup urine disease and phenylketonuria, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Maple Syrup Urine Disease is BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drug 4-phenylbutyric acid has been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 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.

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if untreated.

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)

Wikipedia : 76 Maple syrup urine disease (MSUD) is an autosomal recessivemetabolic 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 69)
# Related Disease Score Top Affiliating Genes
1 intermediate maple syrup urine disease 34.4 BCKDHA BCKDHB DBT PPM1K
2 phenylketonuria 30.5 BTD HADHA OTC QDPR
3 hyperphenylalaninemia 30.3 CAT QDPR SOD1
4 maple syrup urine disease, mild variant 13.0
5 dihydrolipoamide dehydrogenase deficiency 12.4
6 amino acid metabolic disorder 11.4
7 encephalopathy 10.7
8 acrodermatitis 10.5
9 inherited metabolic disorder 10.5
10 glioma 10.5
11 acrodermatitis enteropathica, zinc-deficiency type 10.4
12 pancreatitis 10.4
13 homocystinuria 10.4
14 enteropathica 10.4
15 propionic acidemia 10.3
16 brain injury 10.3
17 congenital hypothyroidism 10.3
18 hypothyroidism 10.3
19 dermatitis 10.3
20 astrocytoma 10.3
21 grade iii astrocytoma 10.3
22 hypoglycemia 10.3
23 neonatal hypothyroidism 10.3
24 retinal detachment 10.2
25 tetralogy of fallot 10.2
26 argininosuccinic aciduria 10.2
27 galactosemia 10.2
28 sandhoff disease 10.2
29 lesch-nyhan syndrome 10.2
30 cerebral palsy 10.2
31 2-hydroxyglutaric aciduria 10.2
32 oculocutaneous albinism 10.2
33 scoliosis 10.2
34 tetanus 10.2
35 tetanus neonatorum 10.2
36 polyneuropathy 10.2
37 status epilepticus 10.2
38 hyperinsulinism 10.2
39 acute pancreatitis 10.2
40 lactic acidosis 10.2
41 movement disease 10.2
42 axonal neuropathy 10.2
43 neuropathy 10.2
44 intracranial hypertension 10.2
45 albinism 10.2
46 aminoaciduria 10.2
47 myoclonus 10.2
48 spasticity 10.2
49 meningitis and encephalitis 10.1 CAT SOD1
50 alpha-ketoglutarate dehydrogenase deficiency 10.1 DLD OGDH

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
hallucinations
hypertonia
coma
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

Human phenotypes related to Maple Syrup Urine Disease:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
8 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
9 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
10 abnormality of the pharynx 59 32 hallmark (90%) Very frequent (99-80%) HP:0000600
11 elevated plasma branched chain amino acids 59 32 hallmark (90%) Very frequent (99-80%) HP:0008344
12 hallucinations 32 HP:0000738
13 hypertonia 32 HP:0001276
14 feeding difficulties in infancy 32 HP:0008872
15 vomiting 32 HP:0002013
16 hypoglycemia 32 HP:0001943
17 pancreatitis 32 HP:0001733
18 lactic acidosis 32 HP:0003128
19 coma 32 HP:0001259
20 lethargy 32 HP:0001254
21 cerebral edema 32 HP:0002181
22 generalized hypotonia 32 HP:0001290
23 ketosis 32 HP:0001946
24 growth abnormality 32 HP:0001507
25 increased level of hippuric acid in urine 32 HP:0410066

UMLS symptoms related to Maple Syrup Urine Disease:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.1 BCKDK
2 Decreased viability GR00221-A-2 10.1 BCKDK SOD1
3 Decreased viability GR00221-A-3 10.1 BCKDK SOD1
4 Decreased viability GR00221-A-4 10.1 SOD1
5 Decreased viability GR00240-S-1 10.1 DLD
6 Decreased viability GR00381-A-1 10.1 BCAT2 BCKDHA GFAP
7 Decreased viability GR00402-S-2 10.1 B3GNT8 BCAT2 BCKDHA BCKDHB BCKDK BTD
8 no effect GR00402-S-1 9.58 B3GNT8 BCAT2 BCKDHA BCKDHB BCKDK BTD

MGI Mouse Phenotypes related to Maple Syrup Urine Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 BCAT2 BCKDK BTD DBT GFAP HMGCL
2 growth/size/body region MP:0005378 9.96 BCAT2 BCKDK BTD DLD GFAP HADHA
3 homeostasis/metabolism MP:0005376 9.93 BCAT2 BCKDK BTD CAT DBT GFAP
4 mortality/aging MP:0010768 9.8 BCAT2 BCKDK CAT DBT DLD GFAP
5 renal/urinary system MP:0005367 9.1 BCAT2 BCKDK BTD DBT HADHA OTC

Drugs & Therapeutics for Maple Syrup Urine Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-phenylbutyric acid Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenylbutyrate Therapy for Maple Syrup Urine Disease Unknown status NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
2 Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria Recruiting NCT01659749 Not Applicable

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 29
2 Maple Syrup Urine Disease 29 BCKDHA BCKDHB DBT
3 Maple Syrup Urine Disease Type 1b 29 BCKDHB
4 Maple Syrup Urine Disease Type 2 29
5 Classical Maple Syrup Urine Disease 29

Anatomical Context for Maple Syrup Urine Disease

MalaCards organs/tissues related to Maple Syrup Urine Disease:

41
Brain, Liver, Testes, Cortex, Skin, Cerebellum, Whole Blood

Publications for Maple Syrup Urine Disease

Articles related to Maple Syrup Urine Disease:

(show top 50) (show all 597)
# Title Authors Year
1
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease. ( 29306928 )
2018
2
Domino Liver Transplant in Maple Syrup Urine Disease: Technical Details of Cases in which the First Surgery Involved a Living Donor. ( 29847508 )
2018
3
A Novel Whole Gene Deletion of <i>BCKDHB</i> by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease. ( 29740478 )
2018
4
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease. ( 29366676 )
2018
5
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease. ( 29740775 )
2018
6
Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. ( 29681447 )
2018
7
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing. ( 29673582 )
2018
8
Imaging Findings in Maple Syrup Urine Disease: A Case Report. ( 29899783 )
2018
9
Successful pregnancy in maple syrup urine disease: a case report and review of the literature. ( 29753318 )
2018
10
Imaging in Maple Syrup Urine Disease. ( 29744745 )
2018
11
Acute Illness Protocol for Maple Syrup Urine Disease. ( 29095391 )
2018
12
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. ( 29307017 )
2018
13
Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry. ( 30023285 )
2018
14
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. ( 30023298 )
2018
15
Liver transplantation from a live donor to a patient with maple syrup urine disease: Two case reports. ( 30116132 )
2018
16
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. ( 30228974 )
2018
17
Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease. ( 30349713 )
2018
18
Perioperative management of living donor related liver transplantation in an infant for Maple syrup urine disease. ( 30443070 )
2018
19
Columbus' egg: a practical approach to nutritional management in maple syrup urine disease. ( 30530885 )
2018
20
The first case of domino-split-liver transplantation in maple syrup urine disease. ( 28580726 )
2017
21
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation. ( 28612395 )
2017
22
Maple syrup urine disease: tailoring a plan for pregnancy. ( 28478731 )
2017
23
MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases. ( 28830848 )
2017
24
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease. ( 28197878 )
2017
25
Twenty novel mutations in<i>BCKDHA</i>,<i>BCKDHB</i>and<i>DBT</i>genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease. ( 28417071 )
2017
26
Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country. ( 27714667 )
2017
27
Evaluation of dynamic thiol/disulphide homeostasis as a novel indicator of oxidative stress in maple syrup urine disease patients under treatment. ( 27535382 )
2017
28
Co-infection with coxsackievirus A5 and norovirus GII.4 could have been the trigger of the first episode of severe acute encephalopathy in a six-year-old child with the intermittent form of maple syrup urine disease (MSUD). ( 28243803 )
2017
29
Serum Markers of Neurodegeneration in Maple Syrup Urine Disease. ( 27660262 )
2017
30
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease. ( 28905140 )
2017
31
Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease. ( 29209542 )
2017
32
Implications of Maple Syrup Urine Disease in Newborns. ( 28599741 )
2017
33
In silico analysis of novel mutations in maple syrup urine disease patients from Iran. ( 27507644 )
2017
34
Apoptotic signaling pathways induced by acute administration of branched-chain amino acids in an animal model of maple syrup urine disease. ( 27510712 )
2017
35
Erratum to: Serum Markers of Neurodegeneration in Maple Syrup Urine Disease. ( 27815833 )
2017
36
Maple syrup urine disease: mechanisms and management. ( 28919799 )
2017
37
Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment. ( 27716111 )
2016
38
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. ( 27682710 )
2016
39
Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features. ( 27761412 )
2016
40
Acrodermatitis dysmetabolica in an infant with maple syrup urine disease. ( 27334242 )
2016
41
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica. ( 27567652 )
2016
42
Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease. ( 26998605 )
2016
43
Liver transplantation for maple syrup urine disease: A global domino effect. ( 27038300 )
2016
44
Maple Syrup Urine Disease Masquerading as Acute Abdomen. ( 27053180 )
2016
45
Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor. ( 27117295 )
2016
46
Successful living donor liver transplantation for classical maple syrup urine disease. ( 27319399 )
2016
47
Heterozygous liver transplantation for maple syrup urine disease: First European reported case. ( 27357264 )
2016
48
Cerebral Oedema, Blood-Brain Barrier Breakdown and the Decrease in Na(+),K(+)-ATPase Activity in the Cerebral Cortex and Hippocampus are Prevented by Dexamethasone in an Animal Model of Maple Syrup Urine Disease. ( 26133302 )
2016
49
Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD). ( 26458887 )
2016
50
Living related versus deceased donor liver transplantation for maple syrup urine disease. ( 26786177 )
2016

Variations for Maple Syrup Urine Disease

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

75 (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
18 DBT p.Ile98Met VAR_015099
19 DBT p.Gly384Ser VAR_015100 rs12021720

ClinVar genetic disease variations for Maple Syrup Urine Disease:

6 (show top 50) (show all 941)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCKDHA NM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137852870 GRCh37 Chromosome 19, 41930487: 41930487
2 BCKDHA NM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137852870 GRCh38 Chromosome 19, 41424582: 41424582
3 BCKDHA NM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852871 GRCh37 Chromosome 19, 41928548: 41928548
4 BCKDHA NM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852871 GRCh38 Chromosome 19, 41422643: 41422643
5 BCKDHA NM_000709.3(BCKDHA): c.1226T> G (p.Phe409Cys) single nucleotide variant Pathogenic rs137852872 GRCh37 Chromosome 19, 41930401: 41930401
6 BCKDHA NM_000709.3(BCKDHA): c.1226T> G (p.Phe409Cys) single nucleotide variant Pathogenic rs137852872 GRCh38 Chromosome 19, 41424496: 41424496
7 BCKDHA NM_000709.3(BCKDHA): c.793C> T (p.Arg265Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137852873 GRCh37 Chromosome 19, 41928215: 41928215
8 BCKDHA NM_000709.3(BCKDHA): c.793C> T (p.Arg265Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137852873 GRCh38 Chromosome 19, 41422310: 41422310
9 BCKDHA NM_000709.3(BCKDHA): c.745G> A (p.Gly249Ser) single nucleotide variant Pathogenic rs137852874 GRCh37 Chromosome 19, 41928167: 41928167
10 BCKDHA NM_000709.3(BCKDHA): c.745G> A (p.Gly249Ser) single nucleotide variant Pathogenic rs137852874 GRCh38 Chromosome 19, 41422262: 41422262
11 BCKDHA NM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg) single nucleotide variant Pathogenic rs137852875 GRCh37 Chromosome 19, 41928609: 41928609
12 BCKDHA NM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg) single nucleotide variant Pathogenic rs137852875 GRCh38 Chromosome 19, 41422704: 41422704
13 BCKDHA NM_000709.3(BCKDHA): c.792C> G (p.Cys264Trp) single nucleotide variant Pathogenic rs137852876 GRCh37 Chromosome 19, 41928214: 41928214
14 BCKDHA NM_000709.3(BCKDHA): c.792C> G (p.Cys264Trp) single nucleotide variant Pathogenic rs137852876 GRCh38 Chromosome 19, 41422309: 41422309
15 BCKDHA BCKDHA, 1-BP DEL, 117C deletion Pathogenic
16 BCKDHB NM_183050.3(BCKDHB): c.548G> C (p.Arg183Pro) single nucleotide variant Pathogenic/Likely pathogenic rs79761867 GRCh37 Chromosome 6, 80878662: 80878662
17 BCKDHB NM_183050.3(BCKDHB): c.548G> C (p.Arg183Pro) single nucleotide variant Pathogenic/Likely pathogenic rs79761867 GRCh38 Chromosome 6, 80168945: 80168945
18 DBT NM_001918.3: c.48_171del124 deletion Pathogenic
19 DBT NM_001918.3(DBT): c.827T> G (p.Phe276Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964999 GRCh37 Chromosome 1, 100680485: 100680485
20 DBT NM_001918.3(DBT): c.827T> G (p.Phe276Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964999 GRCh38 Chromosome 1, 100214929: 100214929
21 DBT NM_001918.3(DBT): c.940_1017del78 deletion Pathogenic rs796052134 GRCh38 Chromosome 1, 100210693: 100210693
22 DBT NM_001918.3(DBT): c.940_1017del78 deletion Pathogenic rs796052134 GRCh37 Chromosome 1, 100676249: 100676249
23 DBT NM_001918.3(DBT): c.1017_1018insNC_000001.11: g.100207187_100207312 single nucleotide variant Uncertain significance rs796052135 GRCh37 Chromosome 1, 100672742: 100672742
24 DBT NM_001918.3(DBT): c.1017_1018insNC_000001.11: g.100207187_100207312 single nucleotide variant Uncertain significance rs796052135 GRCh38 Chromosome 1, 100207186: 100207186
25 DBT NM_001918.3(DBT): c.1150G> A (p.Gly384Ser) single nucleotide variant Benign rs12021720 GRCh37 Chromosome 1, 100672060: 100672060
26 DBT NM_001918.3(DBT): c.1150G> A (p.Gly384Ser) single nucleotide variant Benign rs12021720 GRCh38 Chromosome 1, 100206504: 100206504
27 DBT NM_001918.3(DBT): c.75_76delAT (p.Cys26Trpfs) deletion Pathogenic rs768832921 GRCh37 Chromosome 1, 100706416: 100706417
28 DBT NM_001918.3(DBT): c.75_76delAT (p.Cys26Trpfs) deletion Pathogenic rs768832921 GRCh38 Chromosome 1, 100240860: 100240861
29 DBT NM_001918.3(DBT): c.1282-4142_*(434_435)del deletion Pathogenic GRCh38 Chromosome 1, 100195820: 100200564
30 DBT NM_001918.3(DBT): c.1282-4142_*(434_435)del deletion Pathogenic GRCh37 Chromosome 1, 100661376: 100666120
31 DBT NM_001918.3(DBT): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs121965003 GRCh37 Chromosome 1, 100681730: 100681730
32 DBT NM_001918.3(DBT): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs121965003 GRCh38 Chromosome 1, 100216174: 100216174
33 BCKDHB NM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834234 GRCh37 Chromosome 6, 81053456: 81053456
34 BCKDHB NM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834234 GRCh38 Chromosome 6, 80343739: 80343739
35 BCKDHB NM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834233 GRCh37 Chromosome 6, 80910740: 80910740
36 BCKDHB NM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834233 GRCh38 Chromosome 6, 80201023: 80201023
37 BCKDHA NM_000709.3(BCKDHA): c.917delT (p.Val306Aspfs) deletion Pathogenic rs398123512 GRCh38 Chromosome 19, 41422692: 41422692
38 BCKDHA NM_000709.3(BCKDHA): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs398123513 GRCh37 Chromosome 19, 41928644: 41928644
39 BCKDHA NM_000709.3(BCKDHA): c.-34T> G single nucleotide variant Likely benign rs45500792 GRCh37 Chromosome 19, 41903699: 41903699
40 BCKDHA NM_000709.3(BCKDHA): c.-34T> G single nucleotide variant Likely benign rs45500792 GRCh38 Chromosome 19, 41397794: 41397794
41 BCKDHA NM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys) single nucleotide variant Pathogenic/Likely pathogenic rs182923857 GRCh37 Chromosome 19, 41928943: 41928943
42 BCKDHA NM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys) single nucleotide variant Pathogenic/Likely pathogenic rs182923857 GRCh38 Chromosome 19, 41423038: 41423038
43 BCKDHA NM_000709.3(BCKDHA): c.1037G> A (p.Arg346His) single nucleotide variant Conflicting interpretations of pathogenicity rs398123486 GRCh37 Chromosome 19, 41928944: 41928944
44 BCKDHA NM_000709.3(BCKDHA): c.1037G> A (p.Arg346His) single nucleotide variant Conflicting interpretations of pathogenicity rs398123486 GRCh38 Chromosome 19, 41423039: 41423039
45 BCKDHA NM_000709.3(BCKDHA): c.114C> T (p.Pro38=) single nucleotide variant Benign/Likely benign rs11549935 GRCh37 Chromosome 19, 41916547: 41916547
46 BCKDHA NM_000709.3(BCKDHA): c.114C> T (p.Pro38=) single nucleotide variant Benign/Likely benign rs11549935 GRCh38 Chromosome 19, 41410642: 41410642
47 BCKDHA NM_000709.3(BCKDHA): c.116C> A (p.Pro39His) single nucleotide variant Benign/Likely benign rs11549936 GRCh37 Chromosome 19, 41916549: 41916549
48 BCKDHA NM_000709.3(BCKDHA): c.116C> A (p.Pro39His) single nucleotide variant Benign/Likely benign rs11549936 GRCh38 Chromosome 19, 41410644: 41410644
49 BCKDHA NM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs) deletion Pathogenic rs398123489 GRCh37 Chromosome 19, 41916550: 41916550
50 BCKDHA NM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs) deletion Pathogenic rs398123489 GRCh38 Chromosome 19, 41410645: 41410645

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 KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 BCAT2 BCKDHA BCKDHB BCKDK BTD CAT
2
Show member pathways
13.56 BCAT2 BCKDHA BCKDHB BCKDK DBT DLD
3
Show member pathways
12.12 BCAT2 CAT DLD HADHA OGDH OTC
4
Show member pathways
11.96 CAT HADHA OGDH
5
Show member pathways
11.76 DLD OGDH QDPR
6 11.69 DLD HMGCL OGDH OTC
7 11.57 CAT HMGCL SOD1
8
Show member pathways
11.35 BCAT2 BCKDHA BCKDHB BCKDK DBT DLD
9
Show member pathways
11.27 BCKDHA BCKDHB DBT DLD OGDH
10
Show member pathways
11.15 BCKDHA BCKDHB DBT DLD
11 11.06 BCKDHA BCKDHB DBT DLD HADHA
12 11.02 CAT SOD1
13 10.99 CAT DLD
14 10.03 BCKDHA BCKDHB DBT DLD

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 9.93 BCAT2 BCKDHA BCKDHB BCKDK DBT DLD
2 myelin sheath GO:0043209 9.54 DLD GFAP SOD1
3 peroxisome GO:0005777 9.5 CAT HMGCL SOD1
4 mitochondrial matrix GO:0005759 9.4 BCAT2 BCKDHA BCKDHB BCKDK BTD DBT
5 oxoglutarate dehydrogenase complex GO:0045252 9.26 DLD OGDH
6 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 9.26 BCKDHA BCKDHB BCKDK DBT

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.71 CAT HADHA OTC SOD1
2 aging GO:0007568 9.67 CAT DLD SOD1
3 oxidation-reduction process GO:0055114 9.56 BCKDHA BCKDHB CAT DLD HADHA OGDH
4 liver development GO:0001889 9.5 HMGCL OTC QDPR
5 response to lead ion GO:0010288 9.48 CAT QDPR
6 2-oxoglutarate metabolic process GO:0006103 9.46 DLD OGDH
7 response to fatty acid GO:0070542 9.43 CAT HMGCL
8 response to insulin GO:0032868 9.43 CAT HADHA OTC
9 response to reactive oxygen species GO:0000302 9.37 CAT SOD1
10 histone succinylation GO:0106077 9.16 DLD OGDH
11 branched-chain amino acid catabolic process GO:0009083 9.02 BCAT2 BCKDHA BCKDHB BCKDK PPM1K

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

# Name GO ID Score Top Affiliating Genes
1 antioxidant activity GO:0016209 9.37 CAT SOD1
2 fatty-acyl-CoA binding GO:0000062 9.32 HADHA HMGCL
3 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor GO:0016624 9.26 BCKDHA OGDH
4 oxidoreductase activity GO:0016491 9.23 BCKDHA BCKDHB CAT DLD HADHA OGDH
5 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.16 BCKDHA BCKDHB
6 alpha-ketoacid dehydrogenase activity GO:0003826 8.96 BCKDHA BCKDHB

Sources for Maple Syrup Urine Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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