MCID: MPL001
MIFTS: 65

Maple Syrup Urine Disease

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


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 ataxia, lethargy and seizures. 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

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)

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.

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.

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.

Wikipedia : 76 Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal... 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 60)
# Related Disease Score Top Affiliating Genes
1 intermediate maple syrup urine disease 34.4 BCKDHA BCKDHB DBT PPM1K
2 phenylketonuria 30.1 BTD OTC QDPR
3 hyperphenylalaninemia 30.0 CAT QDPR SOD1
4 maple syrup urine disease, mild variant 12.8
5 dihydrolipoamide dehydrogenase deficiency 12.3
6 amino acid metabolic disorder 11.3
7 cerebritis 10.6
8 encephalopathy 10.6
9 acrodermatitis 10.4
10 peritonitis 10.4
11 meningitis and encephalitis 10.3 CAT SOD1
12 acrodermatitis enteropathica, zinc-deficiency type 10.3
13 pancreatitis 10.3
14 enteropathica 10.3
15 glioma 10.3
16 alpha-ketoglutarate dehydrogenase deficiency 10.3 DLD OGDH
17 erysipelas 10.2 CAT SOD1
18 aging 10.2
19 brain injury 10.2
20 congenital hypothyroidism 10.2
21 hypothyroidism 10.2
22 dermatitis 10.2
23 homocystinuria 10.2
24 hypoglycemia 10.2
25 neonatal hypothyroidism 10.2
26 cerebral hemorrhage 10.2 GFAP SOD1
27 myocardial stunning 10.1 CAT SOD1
28 retinal detachment 10.1
29 tetralogy of fallot 10.1
30 argininosuccinic aciduria 10.1
31 galactosemia 10.1
32 sandhoff disease 10.1
33 lesch-nyhan syndrome 10.1
34 propionic acidemia 10.1
35 cerebral palsy 10.1
36 2-hydroxyglutaric aciduria 10.1
37 oculocutaneous albinism 10.1
38 scoliosis 10.1
39 tetanus 10.1
40 tetanus neonatorum 10.1
41 polyneuropathy 10.1
42 status epilepticus 10.1
43 acute pancreatitis 10.1
44 retinitis 10.1
45 lactic acidosis 10.1
46 movement disease 10.1
47 axonal neuropathy 10.1
48 neuronitis 10.1
49 neuropathy 10.1
50 intracranial hypertension 10.1

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:


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

MGI Mouse Phenotypes related to Maple Syrup Urine Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 BCAT2 BCKDK BTD DBT GFAP HEXB
2 growth/size/body region MP:0005378 9.96 BTD DLD GFAP HEXB HMGCL OGDH
3 homeostasis/metabolism MP:0005376 9.93 BCAT2 BCKDK BTD CAT DBT GFAP
4 mortality/aging MP:0010768 9.8 PPM1K QDPR SOD1 BCAT2 BCKDK CAT
5 renal/urinary system MP:0005367 9.1 BCAT2 BCKDK BTD DBT HEXB 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 Active, not recruiting 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 Completed 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, Whole Blood, Cerebellum

Publications for Maple Syrup Urine Disease

Articles related to Maple Syrup Urine Disease:

(show top 50) (show all 554)
# 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
The first case of domino-split-liver transplantation in maple syrup urine disease. ( 28580726 )
2017
14
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation. ( 28612395 )
2017
15
Maple syrup urine disease: tailoring a plan for pregnancy. ( 28478731 )
2017
16
MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases. ( 28830848 )
2017
17
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease. ( 28197878 )
2017
18
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
19
Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country. ( 27714667 )
2017
20
Evaluation of dynamic thiol/disulphide homeostasis as a novel indicator of oxidative stress in maple syrup urine disease patients under treatment. ( 27535382 )
2017
21
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
22
Serum Markers of Neurodegeneration in Maple Syrup Urine Disease. ( 27660262 )
2017
23
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease. ( 28905140 )
2017
24
Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease. ( 29209542 )
2017
25
Implications of Maple Syrup Urine Disease in Newborns. ( 28599741 )
2017
26
Maple syrup urine disease: mechanisms and management. ( 28919799 )
2017
27
Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment. ( 27716111 )
2016
28
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
29
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
30
Acrodermatitis dysmetabolica in an infant with maple syrup urine disease. ( 27334242 )
2016
31
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica. ( 27567652 )
2016
32
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis. ( 26232051 )
2015
33
Urinary biomarkers of oxidative damage in Maple syrup urine disease: The l-carnitine role. ( 25680940 )
2015
34
Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease. ( 26937410 )
2015
35
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report. ( 25720565 )
2015
36
Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. ( 26453840 )
2015
37
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients. ( 26257134 )
2015
38
Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease. ( 25708273 )
2015
39
Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease. ( 25879313 )
2015
40
Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease. ( 26239723 )
2015
41
Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report. ( 25677046 )
2015
42
Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease. ( 24886632 )
2014
43
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. ( 24618664 )
2014
44
Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy. ( 24486081 )
2014
45
Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro. ( 25046137 )
2014
46
Noninvasive prenatal testing strategy detects maple syrup urine disease in a fetus: Combination of genetic sequencing, maternal blood screening identifies single-gene mutation in vitro. ( 25400240 )
2014
47
Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis. ( 24548198 )
2014
48
Intermittent Maple Syrup Urine Disease: Two Case Reports. ( 24394677 )
2014
49
Identification of a founder mutation for maple syrup urine disease in Hutterites. ( 24791375 )
2014
50
Liver transplantation for classical maple syrup urine disease: long-term follow-up. ( 24979318 )
2014

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 676)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCKDHA NM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn) single nucleotide variant Pathogenic rs137852870 GRCh37 Chromosome 19, 41930487: 41930487
2 BCKDHA NM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn) single nucleotide variant Pathogenic rs137852870 GRCh38 Chromosome 19, 41424582: 41424582
3 BCKDHA BCKDHA, 8-BP DEL, 887-894 deletion Pathogenic
4 BCKDHA NM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs137852871 GRCh37 Chromosome 19, 41928548: 41928548
5 BCKDHA NM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs137852871 GRCh38 Chromosome 19, 41422643: 41422643
6 BCKDHA NM_000709.3(BCKDHA): c.1226T> G (p.Phe409Cys) single nucleotide variant Pathogenic rs137852872 GRCh37 Chromosome 19, 41930401: 41930401
7 BCKDHA NM_000709.3(BCKDHA): c.1226T> G (p.Phe409Cys) single nucleotide variant Pathogenic rs137852872 GRCh38 Chromosome 19, 41424496: 41424496
8 BCKDHA NM_000709.3(BCKDHA): c.745G> A (p.Gly249Ser) single nucleotide variant Pathogenic rs137852874 GRCh37 Chromosome 19, 41928167: 41928167
9 BCKDHA NM_000709.3(BCKDHA): c.745G> A (p.Gly249Ser) single nucleotide variant Pathogenic rs137852874 GRCh38 Chromosome 19, 41422262: 41422262
10 BCKDHA NM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg) single nucleotide variant Pathogenic rs137852875 GRCh37 Chromosome 19, 41928609: 41928609
11 BCKDHA NM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg) single nucleotide variant Pathogenic rs137852875 GRCh38 Chromosome 19, 41422704: 41422704
12 BCKDHA NM_000709.3(BCKDHA): c.792C> G (p.Cys264Trp) single nucleotide variant Pathogenic rs137852876 GRCh37 Chromosome 19, 41928214: 41928214
13 BCKDHA NM_000709.3(BCKDHA): c.792C> G (p.Cys264Trp) single nucleotide variant Pathogenic rs137852876 GRCh38 Chromosome 19, 41422309: 41422309
14 BCKDHA BCKDHA, 1-BP DEL, 117C deletion Pathogenic
15 BCKDHB NM_183050.3(BCKDHB): c.548G> C (p.Arg183Pro) single nucleotide variant Pathogenic/Likely pathogenic rs79761867 GRCh37 Chromosome 6, 80878662: 80878662
16 BCKDHB NM_183050.3(BCKDHB): c.548G> C (p.Arg183Pro) single nucleotide variant Pathogenic/Likely pathogenic rs79761867 GRCh38 Chromosome 6, 80168945: 80168945
17 DBT NM_001918.3: c.48_171del124 deletion Pathogenic
18 DBT NM_001918.3(DBT): c.940_1017del78 deletion Pathogenic rs796052134 GRCh38 Chromosome 1, 100210693: 100210693
19 DBT NM_001918.3(DBT): c.940_1017del78 deletion Pathogenic rs796052134 GRCh37 Chromosome 1, 100676249: 100676249
20 DBT NM_001918.3(DBT): c.75_76delAT (p.Cys26Trpfs) deletion Pathogenic rs768832921 GRCh37 Chromosome 1, 100706416: 100706417
21 DBT NM_001918.3(DBT): c.75_76delAT (p.Cys26Trpfs) deletion Pathogenic rs768832921 GRCh38 Chromosome 1, 100240860: 100240861
22 DBT NM_001918.3(DBT): c.1282-4142_*(434_435)del deletion Pathogenic GRCh38 Chromosome 1, 100195820: 100200564
23 DBT NM_001918.3(DBT): c.1282-4142_*(434_435)del deletion Pathogenic GRCh37 Chromosome 1, 100661376: 100666120
24 DBT NM_001918.3(DBT): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs121965003 GRCh37 Chromosome 1, 100681730: 100681730
25 DBT NM_001918.3(DBT): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs121965003 GRCh38 Chromosome 1, 100216174: 100216174
26 BCKDHA NM_000709.3(BCKDHA): c.740_741insT (p.Ala248Cysfs) insertion Pathogenic rs398123504 GRCh38 Chromosome 19, 41422258: 41422258
27 BCKDHB NM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834234 GRCh37 Chromosome 6, 81053456: 81053456
28 BCKDHB NM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834234 GRCh38 Chromosome 6, 80343739: 80343739
29 BCKDHB NM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834233 GRCh37 Chromosome 6, 80910740: 80910740
30 BCKDHB NM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834233 GRCh38 Chromosome 6, 80201023: 80201023
31 BCKDHA NM_000709.3(BCKDHA): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs398123513 GRCh38 Chromosome 19, 41422739: 41422739
32 BCKDHA NM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys) single nucleotide variant Pathogenic rs182923857 GRCh37 Chromosome 19, 41928943: 41928943
33 BCKDHA NM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys) single nucleotide variant Pathogenic rs182923857 GRCh38 Chromosome 19, 41423038: 41423038
34 BCKDHA NM_000709.3(BCKDHA): c.1037G> A (p.Arg346His) single nucleotide variant Likely pathogenic rs398123486 GRCh37 Chromosome 19, 41928944: 41928944
35 BCKDHA NM_000709.3(BCKDHA): c.1037G> A (p.Arg346His) single nucleotide variant Likely pathogenic rs398123486 GRCh38 Chromosome 19, 41423039: 41423039
36 BCKDHA NM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs) deletion Pathogenic rs398123489 GRCh37 Chromosome 19, 41916550: 41916550
37 BCKDHA NM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs) deletion Pathogenic rs398123489 GRCh38 Chromosome 19, 41410645: 41410645
38 BCKDHA NM_000709.3(BCKDHA): c.1234G> A (p.Val412Met) single nucleotide variant Pathogenic rs398123490 GRCh37 Chromosome 19, 41930409: 41930409
39 BCKDHA NM_000709.3(BCKDHA): c.1234G> A (p.Val412Met) single nucleotide variant Pathogenic rs398123490 GRCh38 Chromosome 19, 41424504: 41424504
40 BCKDHA NM_000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter) single nucleotide variant Pathogenic rs398123491 GRCh37 Chromosome 19, 41930477: 41930477
41 BCKDHA NM_000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter) single nucleotide variant Pathogenic rs398123491 GRCh38 Chromosome 19, 41424572: 41424572
42 BCKDHA NM_000709.3(BCKDHA): c.1310_1311delAC (p.His437Leufs) deletion Pathogenic rs398123492 GRCh37 Chromosome 19, 41930485: 41930486
43 BCKDHA NM_000709.3(BCKDHA): c.1310_1311delAC (p.His437Leufs) deletion Pathogenic rs398123492 GRCh38 Chromosome 19, 41424580: 41424581
44 BCKDHA NM_000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter) single nucleotide variant Pathogenic rs398123493 GRCh37 Chromosome 19, 41930489: 41930489
45 BCKDHA NM_000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter) single nucleotide variant Pathogenic rs398123493 GRCh38 Chromosome 19, 41424584: 41424584
46 BCKDHA NM_000709.3(BCKDHA): c.14delT (p.Ile5Thrfs) deletion Pathogenic rs398123494 GRCh37 Chromosome 19, 41903746: 41903746
47 BCKDHA NM_000709.3(BCKDHA): c.14delT (p.Ile5Thrfs) deletion Pathogenic rs398123494 GRCh38 Chromosome 19, 41397841: 41397841
48 BCKDHA NM_000709.3(BCKDHA): c.288+1G> A single nucleotide variant Pathogenic rs398123496 GRCh37 Chromosome 19, 41916722: 41916722
49 BCKDHA NM_000709.3(BCKDHA): c.288+1G> A single nucleotide variant Pathogenic rs398123496 GRCh38 Chromosome 19, 41410817: 41410817
50 BCKDHA NM_000709.3(BCKDHA): c.288+9C> T single nucleotide variant Pathogenic rs398123497 GRCh37 Chromosome 19, 41916730: 41916730

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 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 OGDH OTC
4
Show member pathways
11.76 DLD OGDH QDPR
5 11.69 DLD HMGCL OGDH OTC
6 11.57 CAT HMGCL SOD1
7
Show member pathways
11.3 BCAT2 BCKDHA BCKDHB BCKDK DBT DLD
8
Show member pathways
11.17 BCKDHA BCKDHB DBT DLD OGDH
9 11.13 BCKDHA BCKDHB DBT DLD
10
Show member pathways
11.03 BCKDHA BCKDHB DBT DLD
11 11.02 CAT SOD1
12 10.96 CAT DLD
13 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 9.97 BCAT2 BCKDHA BCKDHB BCKDK CAT DBT
2 lysosome GO:0005764 9.67 CAT GFAP HEXB SOD1
3 myelin sheath GO:0043209 9.58 DLD GFAP SOD1
4 peroxisome GO:0005777 9.5 CAT HMGCL SOD1
5 mitochondrial matrix GO:0005759 9.4 BCAT2 BCKDHA BCKDHB BCKDK BTD DBT
6 oxoglutarate dehydrogenase complex GO:0045252 9.26 DLD OGDH
7 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 13)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.73 BCAT2 BCKDHA BCKDHB DBT HEXB OGDH
2 aging GO:0007568 9.7 CAT DLD SOD1
3 oxidation-reduction process GO:0055114 9.7 BCKDHA BCKDHB CAT DLD OGDH QDPR
4 liver development GO:0001889 9.54 HMGCL OTC QDPR
5 tricarboxylic acid cycle GO:0006099 9.51 DLD OGDH
6 response to lead ion GO:0010288 9.49 CAT QDPR
7 2-oxoglutarate metabolic process GO:0006103 9.48 DLD OGDH
8 response to fatty acid GO:0070542 9.46 CAT HMGCL
9 response to reactive oxygen species GO:0000302 9.43 CAT SOD1
10 lysine catabolic process GO:0006554 9.4 DLD OGDH
11 cellular nitrogen compound metabolic process GO:0034641 9.35 BCKDHA BCKDHB DBT DLD OGDH
12 histone succinylation GO:0106077 9.32 DLD OGDH
13 branched-chain amino acid catabolic process GO:0009083 9.17 BCAT2 BCKDHA BCKDHB BCKDK DBT DLD

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 CAT HEXB HMGCL QDPR SOD1
2 carboxy-lyase activity GO:0016831 9.37 BCKDHA BCKDHB
3 antioxidant activity GO:0016209 9.32 CAT SOD1
4 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor GO:0016624 9.26 BCKDHA OGDH
5 oxidoreductase activity GO:0016491 9.17 BCKDHA BCKDHB CAT DLD OGDH QDPR
6 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.16 BCKDHA BCKDHB
7 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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