MSUD
MCID: MPL001
MIFTS: 60

Maple Syrup Urine Disease (MSUD) malady

Metabolic, Nephrological categories

Summaries for Maple Syrup Urine Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 phenylketonuria and homocystinuria. 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 Ketone body metabolism and glutamine degradation I. The compounds norvaline and hypothiocyanite have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spinal cord, and related mouse phenotypes are renal/urinary system and behavior/neurological.

Disease Ontology:8 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:21 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. Beginning in early infancy, this condition is 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:64 Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal... more...

Description from OMIM:47 248600

GeneReviews summary for msud

Aliases & Classifications for Maple Syrup Urine Disease

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 47OMIM, 57SNOMED-CT, 40NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic, Nephrological


Aliases & Descriptions:

maple syrup urine disease 8 19 43 20 22 21 10 45 61
bckd deficiency 19 43 21
msud 19 43 21
branched-chain alpha-keto acid dehydrogenase deficiency 43 21
branched chain ketoaciduria 8 43
branched-chain ketoaciduria 19 21
branched-chain ketoacid dehydrogenase deficiency 19
keto acid decarboxylase deficiency 43
maple syrup disease 19
ketoacidaemia 8
ketoacidemia 21


External Ids:

Disease Ontology8 DOID:9269
MeSH35 D008375
OMIM47 248600
SNOMED-CT57 27718001
NCIt40 C34806
ICD1025 E71.0

Related Diseases for Maple Syrup Urine Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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 66)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria31.3HADHA, BTD, SLC7A5, OTC
2homocystinuria30.7OTC, HMGCL, MMD, BTD, HADHA
3hypoglycemia30.7HADHA, GLUD1, BTD, DLD, HMGCL
4argininosuccinic aciduria30.5OTC
5isovaleric acidemia30.5HMGCL
6propionic acidemia30.5OTC, HMGCL, MMD
7alpha chain disease11.2
8brain disease11.0
9mu chain disease11.0
10maple syrup urine disease type 211.0
11maple syrup urine disease type 1a10.8
12maple syrup urine disease type 1b10.8
13maple syrup urine disease, mild variant10.8
14lip disease10.8
15nutrition disease10.7
16maple syrup urine disease type 310.6
17dihydrolipoamide dehydrogenase deficiency10.6
18acrodermatitis10.5
19congenital hypothyroidism10.5
20acrodermatitis enteropathica10.5
21enteropathica10.5
22brain injury10.5
23corneal disease10.4
24marfan syndrome10.4
25axonal neuropathy10.4
26status epilepticus10.4
27lesch-nyhan syndrome10.4
28tetanus neonatorum10.4
29wernicke encephalopathy10.4
30citrullinemia10.4
31fabry disease10.4
32n syndrome10.4
33spinal cord disease10.4
34tetanus10.4
35dent's disease10.4
36hyperphenylalaninemia10.4
37marinesco-sjögren syndrome10.4
38mckusick-kaufman syndrome10.4
39mcleod neuroacanthocytosis syndrome10.4
40aminoaciduria10.4
41brainstem auditory evoked responses10.4
42neonatal hypothyroidism10.4
43mental retardation10.4
44myoclonus10.4
45spasticity10.4
46memory impairment10.4
47blindness10.4
48psychomotor disease10.4
49lipoamide dehydrogenase deficiency10.3
50thiolase deficiency10.0

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



Diseases related to maple syrup urine disease

Clinical Features for Maple Syrup Urine Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

248600

Drugs & Therapeutics for Maple Syrup Urine Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Maple Syrup Urine Disease

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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Maple Syrup Urine Disease:

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease20 22

Anatomical Context for Maple Syrup Urine Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Maple Syrup Urine Disease:

33
Skin, Liver, Spinal cord, Brain, Whole blood, Cortex, Cerebellum, T cells

Animal Models for Maple Syrup Urine Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Maple Syrup Urine Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4HADHA, DBT, BTD, OTC, BCKDK, BCAT2
2MP:00053869.0CHKB, DBT, BTD, DLST, OTC, BCKDK
3MP:00053768.7BCAT2, HADHA, NIPSNAP1, PPM1K, CHKB, DBT
4MP:00053788.6HADHA, GLUD1, BTD, DLST, DLD, HMGCL

Publications for Maple Syrup Urine Disease

Sources:
51PubMed
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Articles related to Maple Syrup Urine Disease:

(show top 50)    (show all 494)
idTitleAuthorsYear
1
A novel regulatory defect in the branched-chain I+-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. (23086801)
2013
2
In vivo neuroprotective effect of L-carnitine against oxidative stress in maple syrup urine disease. (21380499)
2011
3
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. (20570198)
2010
4
DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities. (20136525)
2010
5
Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms. (18824578)
2008
6
Psychosocial issues in families affected by maple syrup urine disease. (17703353)
2007
7
Variant maple syrup urine disease (MSUD)--the entire spectrum. (17063375)
2006
8
The longest-surviving patient with classical maple syrup urine disease. (16601890)
2006
9
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. (14755340)
2004
10
Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine. (14970005)
2004
11
Evidence that the branched-chain alpha-keto acids accumulating in maple syrup urine disease induce morphological alterations and death in cultured astrocytes from rat cerebral cortex. (15390119)
2004
12
Changes in the auditory nerve brainstem evoked responses in a case of maple syrup urine disease. (14995088)
2004
13
Inhibition of brain energy metabolism by the alpha-keto acids accumulating in maple syrup urine disease. (14636955)
2003
14
Effect of the branched-chain alpha-ketoacids accumulating in maple syrup urine disease on the high molecular weight neurofilament subunit (NF-H) in rat cerebral cortex. (12083338)
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
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. (11196106)
2000
17
Maple syrup urine disease: nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip. (9584272)
1998
18
Retinopathy associated with pancreatitis in a child with maple syrup urine disease. (9924384)
1998
19
Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease. (9582350)
1998
20
Fenugreek odour in maple syrup urine disease. (9266407)
1997
21
Anaesthetic management in maple syrup urine disease. (8694213)
1996
22
Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. (7567243)
1995
23
Molecular heterogeneity for bovine maple syrup urine disease. (7818167)
1994
24
Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination. (1583867)
1992
25
Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease. (1558579)
1992
26
Acute illness in maple syrup urine disease: dynamics of protein metabolism and implications for management. (2066856)
1991
27
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched- chain alpha-keto acid dehydrogenase complex. (1885764)
1991
28
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. (1990841)
1991
29
Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease. (1982835)
1990
30
Protein and leucine metabolism in maple syrup urine disease. (2185648)
1990
31
On the mechanism of L-alloisoleucine formation: studies on a healthy subject and in fibroblasts from normals and patients with maple syrup urine disease. (2116545)
1990
32
Maple syrup urine disease: case report of 2 Thai infants. (2732631)
1989
33
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. (2703538)
1989
34
Treatment outcome of maple syrup urine disease. (3150230)
1988
35
Maple syrup urine disease in five hereford calves in ontario. (17422842)
1987
36
A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease. (3123794)
1987
37
Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease. (6422161)
1983
38
Maple-syrup-urine disease. (6835327)
1983
39
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate. (6954481)
1982
40
Maple syrup urine disease: response to dietary modifications. (489438)
1979
41
Nursing care study. Maple syrup urine disease: quick diagnosis preserves a life. (251299)
1978
42
Hazards of anesthesia and operation in maple-syrup-urine disease. (931)
1976
43
Management of maple syrup urine disease in Canada. Committee for improvement of Hereditary Disease Management. (1032577)
1976
44
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
45
Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. (4355237)
1973
46
Multiple exchange transfusions as treatment during the acute period in maple syrup urine disease. (4644280)
1972
47
A case of classical maple syrup urine disease "thiamine non-responsive". (5066975)
1972
48
Maple syrup urine disease. (5681564)
1968
49
Maple syrup urine disease in an infant with microgyria. (6059316)
1967
50
Recent work on phenylketonuria and maple syrup urine disease (leucinosis). (14001839)
1962

Genetic Variations for Maple Syrup Urine Disease

Expression for genes affiliated with Maple Syrup Urine Disease

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology
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Compounds for genes affiliated with Maple Syrup Urine Disease

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1norvaline45 1111.5OTC, GLUD1
2hypothiocyanite45 2411.5DLD, BCKDHA, BCKDHB
3lipoamide45 2411.5BCKDHA, DLD
4glutaryl-coa45 2411.4DLD, DLST
5alpha-ketoisocaproate4510.4BCAT2, GLUD1
63-methylcrotonyl-coa45 2411.4BTD, HADHA
7dihydrolipoamide45 2411.4DLD, DLST, DBT
8Lipoic Acid11 2411.3DLST, DBT
9carbon dioxide45 2411.3ALDH6A1, BCKDHB, BCKDHA, DLD
10acetyl-l-carnitine4510.3HADHA, OTC
11Coenzyme A11 2411.2DBT, DLD, ALDH6A1
12gamma-hydroxybutyrate4510.2CHKB, GLUD1
13alpha-ketoglutarate4510.2GLUD1, DLST, DLD
142-methylbutyryl-coa45 2411.2HADHA, DBT, BCKDHA, BCKDHB, ALDH6A1
15octanoyl-coa45 2411.2HADHA, DBT, BCKDHA, BCKDHB, ALDH6A1
16(2E)-Octenoyl-CoA2410.2BCKDHB, BCKDHA, DBT, HADHA, ALDH6A1
17(2E)-Tetradecenoyl-CoA2410.2ALDH6A1, BCKDHB, BCKDHA, DBT, HADHA
18(2E)-Dodecenoyl-CoA2410.2HADHA, ALDH6A1, BCKDHB, BCKDHA, DBT
19(2E)-Decenoyl-CoA2410.2ALDH6A1, BCKDHB, BCKDHA, DBT, HADHA
20(2E)-Hexadecenoyl-CoA2410.2HADHA, DBT, BCKDHA, BCKDHB, ALDH6A1
21malate4510.2OTC, GLUD1, HSPE1
22stearoyl-coa45 2411.2HADHA, DBT, BCKDHA, BCKDHB, ALDH6A1
23carnitine4510.2HADHA, CHKB, GLUD1, OTC
24beta-hydroxybutyrate4510.1CHKB, GLUD1
25thiamine pyrophosphate45 2411.1BCKDHB, BCKDHA
26ornithine45 2411.1CHKB, GLUD1, SLC7A5, OTC
27nad29 2411.0HADHA, GLUD1, DLD, ALDH6A1
28urea45 11 2412.0HSPE1, CHKB, GLUD1, OTC
29citrate4510.0HSPE1, HADHA, CHKB, GLUD1
30nadh45 11 2412.0HADHA, GLUD1, DLD, ALDH6A1
31acyl-coa4510.0HSPE1, HADHA, GLUD1, BTD, OTC
32lysine459.9HADHA, CHKB, GLUD1, BTD, OTC
33glutamine459.9HADHA, CHKB, GLUD1, SLC7A5, OTC
34fatty acid459.9HADHA, CHKB, DBT, GLUD1, BTD, OTC
35carbamoyl phosphate459.8GLUD1, OTC
36creatinine459.8HSPE1, HADHA, CHKB, GLUD1, OTC
37leucine459.7CHKB, GLUD1, HMGCL, SLC7A5, OTC, BCAT2
38alanine459.7HADHA, CHKB, GLUD1, BTD, DLD, SLC7A5
39acetyl-coa45 2410.7HADHA, DBT, GLUD1, DLD, HMGCL, BCKDHA
40lactate459.6HSPE1, HADHA, CHKB, GLUD1, BTD, DLD
41arginine459.6OTC, SLC7A5, BTD, GLUD1, CHKB
42glucose459.5HSPE1, HADHA, CHKB, GLUD1, BTD, SLC7A5
43cysteine459.4HSPE1, CHKB, GLUD1, BTD, HMGCL, SLC7A5
44serine459.2HSPE1, HADHA, DBT, GLUD1, BTD, DLD
45pyruvate459.1BCKDHB, HSPE1, HADHA, CHKB, DBT, GLUD1

GO Terms for genes affiliated with Maple Syrup Urine Disease

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.8OTC, HMGCL, NIPSNAP1, HADHA
2mitochondrial alpha-ketoglutarate dehydrogenase complexGO:0059479.6DBT, BCKDHA, BCKDK, BCKDHB
3mitochondrial matrixGO:0057598.2ALDH6A1, BCKDHB, BCAT2, BCKDHA, OTC, HMGCL
4mitochondrionGO:0057397.8ALDH6A1, HSPE1, HADHA, BCKDHB, BCAT2, BCKDK

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

idNameGO IDScoreTop Affiliating Genes
1lysine catabolic processGO:00655410.1DLD, DLST
2valine metabolic processGO:0065739.8ALDH6A1, BCAT2
3branched-chain amino acid catabolic processGO:0090839.4ALDH6A1, DBT, DLD, BCKDHA, BCKDK, BCAT2
4cellular nitrogen compound metabolic processGO:0346418.9DBT, GLUD1, DLST, DLD, OTC, BCKDHA
5small molecule metabolic processGO:0442818.2BTD, GLUD1, DBT, CHKB, HADHA, DLST

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

idNameGO IDScoreTop Affiliating Genes
1carboxy-lyase activityGO:01683110.2BCKDHB, BCKDHA
2alpha-ketoacid dehydrogenase activityGO:00382610.1BCKDHB, BCKDHA
3fatty-acyl-CoA bindingGO:00006210.0ALDH6A1, HMGCL, HADHA
43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:0038639.9BCKDHB, BCKDHA

Products for genes affiliated with Maple Syrup Urine Disease

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Sources for Maple Syrup Urine Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet