MSUD
MCID: MPL001
MIFTS: 59

Maple Syrup Urine Disease (MSUD) malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Maple Syrup Urine Disease

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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. last updated: 5/10/2012

MalaCards: Maple Syrup Urine Disease, also known as bckd deficiency, is related to hypoglycemia and maple syrup urine disease type 2. An important gene associated with Maple Syrup Urine Disease is BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide), and among its related pathways are Metabolism of amino acids and derivatives and superpathway of methionine degradation. The compounds 3-Methyl-1-hydroxybutyl-ThPP and 2-Methyl-1-hydroxypropyl-ThPP have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes.

Disease Ontology:9 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:22 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 and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

Wikipedia:66 Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal... more...

Description from OMIM:48 248600

GeneReviews summary for msud

Aliases & Classifications for Maple Syrup Urine Disease

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 41NCIt, 36MeSH, 59SNOMED-CT, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

maple syrup urine disease 9 20 44 21 23 22 11 46 63
bckd deficiency 20 44 22
msud 20 44 22
branched-chain alpha-keto acid dehydrogenase deficiency 44 22
branched chain ketoaciduria 9 44
branched-chain ketoaciduria 20 22
branched-chain ketoacid dehydrogenase deficiency 20
keto acid decarboxylase deficiency 44
maple syrup disease 20
ketoacidaemia 9
ketoacidemia 22


External Ids:

Disease Ontology9 DOID:9269
OMIM48 248600
NCIt41 C34806
SNOMED-CT59 27718001
MeSH36 D008375
ICD1026 E71.0

Related Diseases for Maple Syrup Urine Disease

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18GeneCards, 19GeneDecks
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Diseases in the Maple Syrup Urine Disease Type 2 family:

maple syrup urine disease Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 3

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.7DLD, HMGCL
2maple syrup urine disease type 211.0
3cerebritis10.9
4phenylketonuria10.9
5maple syrup urine disease type 1a10.7
6maple syrup urine disease type 1b10.7
7peritonitis10.7
8ophthalmoplegia10.6
9dihydrolipoamide dehydrogenase deficiency10.6
10maple syrup urine disease type 310.6
11maple syrup urine disease, mild variant10.6
12acrodermatitis10.5
13homocystinuria10.5
14congenital hypothyroidism10.5
15acrodermatitis enteropathica10.5
16dermatitis10.5
17hypothyroidism10.5
18pancreatitis10.5
19enteropathica10.5
20mental retardation10.5
21brain injury10.5
22axonal neuropathy10.4
23lesch-nyhan syndrome10.4
24status epilepticus10.4
25neuronitis10.4
26citrullinemia10.4
27tetralogy of fallot10.4
28propionic acidemia10.4
29argininosuccinic aciduria10.4
30isovaleric acidemia10.4
31tetanus neonatorum10.4
32marfan syndrome10.4
332-hydroxyglutaric aciduria10.4
34cerebral palsy10.4
35galactosemia10.4
36hepatitis10.4
37hypertension10.4
38intracranial hypertension10.4
39lactic acidosis10.4
40neuropathy10.4
41tetanus10.4
42hyperphenylalaninemia10.4
43marinesco-sjƶgren syndrome10.4
44mckusick-kaufman syndrome10.4
45mcleod neuroacanthocytosis syndrome10.4
46aminoaciduria10.4
47myoclonus10.4
48spasticity10.4
49memory impairment10.4
50blindness10.4

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



Diseases related to maple syrup urine disease

Symptoms for Maple Syrup Urine Disease

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48OMIM
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Clinical features from OMIM:

248600

Drugs & Therapeutics for Maple Syrup Urine Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Maple Syrup Urine Disease

Search NIH Clinical Center for Maple Syrup Urine Disease

Search CenterWatch for Maple Syrup Urine Disease

Genetic Tests for Maple Syrup Urine Disease

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21GeneTests, 23GTR
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Genetic tests related to Maple Syrup Urine Disease:

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease21 23

Anatomical Context for Maple Syrup Urine Disease

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34MalaCards
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MalaCards organs/tissues related to Maple Syrup Urine Disease:

34
Brain, Liver, Testes, Cortex, Skin, Spinal cord, Whole blood, Cerebellum

Animal Models for Maple Syrup Urine Disease or affiliated genes

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Publications for Maple Syrup Urine Disease

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53PubMed
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Articles related to Maple Syrup Urine Disease:

(show top 50)    (show all 488)
idTitleAuthorsYear
1
Structural white matter changes in adolescents and young adults with maple syrup urine disease. (23355088)
2013
2
Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population. (23412862)
2013
3
Imaging in neonatal maple syrup urine disease. (22865353)
2013
4
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation. (22350544)
2012
5
Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. (21839471)
2012
6
The use of botulinum toxin and epidural analgesia for the treatment of spasticity and pain in a patient with maple syrup urine disease. (22754448)
2012
7
Classical maple syrup urine disease and brain development: principles of management and formula design. (20061171)
2010
8
The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease. (19688253)
2009
9
Social outcome in adults with maple syrup urine disease (MSUD). (17310329)
2007
10
Restoration of brain stem auditory-evoked potential in maple syrup urine disease. (17414178)
2007
11
Domino liver transplantation in maple syrup urine disease. (16628687)
2006
12
Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model. (16518628)
2006
13
Maple syrup urine disease presenting with neonatal status epilepticus: report of one case. (14674232)
2003
14
Stimulation of lipid peroxidation in vitro in rat brain by the metabolites accumulating in maple syrup urine disease. (11894849)
2002
15
Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community. (11486905)
2001
16
Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease. (11507102)
2001
17
Computed tomography findings in maple syrup urine disease. (9844500)
1998
18
750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease. (9260660)
1997
19
E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. (9239422)
1997
20
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease. (9296536)
1997
21
Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer. (7782943)
1995
22
Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. (7567243)
1995
23
An asymptomatic variant of maple syrup urine disease without organic aciduria. (8051917)
1994
24
Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method. (8306450)
1993
25
Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex. (8161368)
1993
26
Maple syrup urine disease in Poll Shorthorn calves. (1642599)
1992
27
Acute illness in maple syrup urine disease: dynamics of protein metabolism and implications for management. (2066856)
1991
28
Maple syrup urine disease (branched chain ketoaciduria). (2356868)
1990
29
cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. (2634344)
1989
30
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
31
Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child. (2768232)
1989
32
Branched-chain alpha-keto acids for the diagnosis of maple-syrup-urine disease. (3821846)
1987
33
Maple syrup urine disease as a cause of spongiform encephalopathy in calves. (3529596)
1986
34
Absence of branched chain acyl-transferase as a cause of maple syrup urine disease. (3980729)
1985
35
First-trimester diagnosis of maple syrup urine disease on intact chorionic villi. (4069174)
1985
36
Scoliosis and maple syrup urine disease. (6693558)
1984
37
Cerebral edema in maple syrup urine disease. (7091101)
1982
38
Antenatal diagnosis of maple syrup urine disease. (518415)
1979
39
Trace element disturbances in dietetically treated patients with phenylketonuria and maple syrup urine disease. (732826)
1978
40
Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts. (985377)
1976
41
Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease. (4813956)
1974
42
Letter: Historical observation in maple syrup urine disease. (4419958)
1974
43
Maple syrup urine disease: report of a case. (4443061)
1974
44
Maple syrup urine disease variant. Report of a case. (5084379)
1972
45
Atypical case of leucinosis (maple syrup urine disease). (5100310)
1971
46
Peritoneal dialysis in maple syrup urine disease. (4188300)
1969
47
Maple syrup urine disease. (5681564)
1968
48
Maple syrup urine disease in an infant with microgyria. (6059316)
1967
49
MAPLE SYRUP URINE DISEASE; FURTHER OBSERVATIONS. (14063708)
1963
50
Argininosuccinic aciduria and maple syrup urine disease. (13885492)
1962

Variations for Maple Syrup Urine Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Maple Syrup Urine Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1BCKDHANM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn)single nucleotide variantPathogenicrs137852870GRCh37Chr 19, 41930487: 41930487
2BCKDHBNM_000056.3(BCKDHB): c.548G> C (p.Arg183Pro)single nucleotide variantPathogenicrs79761867GRCh37Chr 6, 80878662: 80878662
3BCKDHBNM_000056.3(BCKDHB): c.1114G> T (p.Glu372Ter)single nucleotide variantPathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
4BCKDHBNM_000056.3(BCKDHB): c.832G> A (p.Gly278Ser)single nucleotide variantPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740

Expression for genes affiliated with Maple Syrup Urine Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maple Syrup Urine Disease

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

Pathways for genes affiliated with Maple Syrup Urine Disease

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.5DBT, BCKDHB, BCKDHA, DLD
2
Show member pathways
L-cysteine degradation I39
2-oxoisovalerate decarboxylation to isobutanoyl-CoA39
cysteine biosynthesis III (mammalia)39
2-oxobutanoate degradation I39
8.5DBT, BCKDHB, BCKDHA, DLD
3
Show member pathways
7.9HMGCL, DLD, BCKDHA, BCKDHB, DBT
4
Show member pathways
beta-alanine degradation I39
valine degradation I39
pyruvate fermentation to lactate39
isoleucine degradation I39
7.9HMGCL, DLD, BCKDHA, BCKDHB, DBT

Compounds for genes affiliated with Maple Syrup Urine Disease

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25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
13-Methyl-1-hydroxybutyl-ThPP2510.0BCKDHB, BCKDHA
22-Methyl-1-hydroxypropyl-ThPP2510.0BCKDHB, BCKDHA
33-Methyl-2-oxovaleric acid2510.0BCKDHA, BCKDHB
4Alpha-ketoisovaleric acid259.8BCKDHA, BCKDHB
5lipoamide46 2510.6DLD, BCKDHA
6S-(2-Methylbutanoyl)-dihydrolipoamide259.5BCKDHA, DBT, BCKDHB
7S-(3-Methylbutanoyl)-dihydrolipoamide-E259.5DBT, BCKDHB, BCKDHA
8S-(2-Methylpropionyl)-dihydrolipoamide-E259.5DBT, BCKDHB, BCKDHA
92-Ketobutyric acid259.5BCKDHB, BCKDHA
10Pentanoyl-CoA259.5BCKDHA, BCKDHB, DBT
11Nonanoyl-CoA259.5DBT, BCKDHB, BCKDHA
12Lauroyl-CoA259.5DBT, BCKDHB, BCKDHA
13Isovaleryl-CoA259.5DBT, BCKDHB, BCKDHA
14Undecanoyl-CoA259.5DBT, BCKDHB, BCKDHA
15trans-Octadec-2-enoyl-CoA259.5DBT, BCKDHB, BCKDHA
16Tetracosanoyl-CoA259.5DBT, BCKDHB, BCKDHA
17Isobutyryl-CoA259.5DBT, BCKDHB, BCKDHA
18Butyryl-CoA259.5DBT, BCKDHB, BCKDHA
192-Methylhexanoyl-CoA259.5DBT, BCKDHB, BCKDHA
202-methylbutyryl-coa46 2510.5DBT, BCKDHB, BCKDHA
21Decanoyl-CoA (n-C10:0CoA)259.5BCKDHA, BCKDHB, DBT
22Hexanoyl-CoA259.5DBT, BCKDHB, BCKDHA
23Glutaconyl-CoA259.5DBT, BCKDHB, BCKDHA
24Eicosanoyl-CoA259.5DBT, BCKDHB, BCKDHA
253Z-dodecenoyl-CoA259.4DBT, BCKDHB, BCKDHA
26octanoyl-coa46 2510.4DBT, BCKDHB, BCKDHA
27Acrylyl-CoA259.4BCKDHB, DBT, BCKDHA
28Crotonoyl-CoA259.4BCKDHA, BCKDHB, DBT
29hypothiocyanite46 2510.4DLD, BCKDHA, BCKDHB
30Pristanoyl-CoA259.4BCKDHA, BCKDHB, DBT
31carbon dioxide46 2510.4BCKDHB, BCKDHA, DLD
32trans-2-Hexenoyl-CoA259.4BCKDHA, BCKDHB, DBT
33(2E)-Tetradecenoyl-CoA259.4DBT, BCKDHA, BCKDHB
34dihydrolipoamide46 2510.4DLD, DBT
35(2E)-Decenoyl-CoA259.4BCKDHA, BCKDHB, DBT
36(2E)-Dodecenoyl-CoA259.4BCKDHA, BCKDHB, DBT
37(2E)-Octenoyl-CoA259.4BCKDHA, BCKDHB, DBT
38(2E)-Hexadecenoyl-CoA259.4DBT, BCKDHB, BCKDHA
39stearoyl-coa46 2510.3DBT, BCKDHB, BCKDHA
40Coenzyme A25 1210.3DLD, DBT
41Propionyl-CoA259.3DBT, BCKDHB, BCKDHA
42thiamine pyrophosphate46 2510.3BCKDHB, BCKDHA
43Heptanoyl-CoA259.3DBT, BCKDHB, BCKDHA
44Palmityl-CoA259.3DBT, BCKDHB, BCKDHA
45Heptadecanoyl CoA259.2DBT, BCKDHB, BCKDHA
46pyruvate468.9DLD, BCKDHB, DBT
47acetyl-coa46 259.4DBT, BCKDHB, BCKDHA, DLD, HMGCL

GO Terms for genes affiliated with Maple Syrup Urine Disease

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17Gene Ontology
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Cellular components related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial alpha-ketoglutarate dehydrogenase complexGO:0059478.8DBT, BCKDHB, BCKDHA
2mitochondrionGO:0057397.1HMGCL, DLD, BCKDHA, BCKDHB, DBT, PPM1K
3mitochondrial matrixGO:0057597.0HMGCL, DLD, BCKDHA, BCKDHB, DBT, PPM1K

Biological processes related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to nutrientGO:0075849.5HMGCL, BCKDHB
2branched-chain amino acid catabolic processGO:0090838.5DLD, BCKDHA, BCKDHB, DBT
3cellular nitrogen compound metabolic processGO:0346418.4DBT, BCKDHB, BCKDHA, DLD
4small molecule metabolic processGO:0442817.6HMGCL, DLD, BCKDHA, BCKDHB, DBT

Molecular functions related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carboxy-lyase activityGO:0168319.6BCKDHA, BCKDHB
2alpha-ketoacid dehydrogenase activityGO:0038269.5BCKDHA, BCKDHB
33-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:0038639.3BCKDHA, BCKDHB

Products for genes affiliated with Maple Syrup Urine Disease

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Sources for Maple Syrup Urine Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet