MSUD
MCID: MPL001
MIFTS: 60

Maple Syrup Urine Disease (MSUD) malady

Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases categories
Download this MalaCard

Summaries for Maple Syrup Urine Disease

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 based summary: Maple Syrup Urine Disease, also known as branched-chain alpha-keto acid dehydrogenase 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: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 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:65 Maple syrup urine Syndrome (MSUD), also called branched-chain ketoaciduria, is an autosomal... more...

Description from OMIM:46 248600

GeneReviews summary for msud

Aliases & Classifications for Maple Syrup Urine Disease

About this section

Maple Syrup Urine Disease, Aliases & Descriptions:

Name: Maple Syrup Urine Disease 8 19 42 20 22 21 10 44 62
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 42 21 62
Branched-Chain Ketoaciduria 19 21 62
Bckd Deficiency 19 42 21
Msud 19 42 21
Keto Acid Decarboxylase Deficiency 42 62
 
Branched Chain Ketoaciduria 8 42
Ketoacidaemia 8 62
Branched Chain Ketoacid Dehydrogenase Deficiency 62
Branched-Chain Ketoacid Dehydrogenase Deficiency 19
Maple Syrup Disease 19
Ketoacidemia 21


Classifications:



External Ids:

Disease Ontology8 DOID:9269
OMIM46 248600
NCIt39 C34806
SNOMED-CT57 27718001
MeSH34 D008375
ICD1025 E71.0

Related Diseases for Maple Syrup Urine Disease

About this section

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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.7DLD, HMGCL
2maple syrup urine disease type 211.0
3cerebritis10.9
4phenylketonuria10.9
5maple syrup urine disease type 1a10.8
6maple syrup urine disease type 1b10.8
7peritonitis10.7
8ophthalmoplegia10.6
9dihydrolipoamide dehydrogenase deficiency10.6
10maple syrup urine disease type 310.6
11maple syrup urine disease, mild variant10.6
12brain injury10.5
13acrodermatitis10.5
14homocystinuria10.5
15congenital hypothyroidism10.5
16acrodermatitis enteropathica10.5
17dermatitis10.5
18hypothyroidism10.5
19pancreatitis10.5
20enteropathica10.5
21mental retardation10.5
22cerebral palsy10.4
23hepatitis10.4
24hypertension10.4
25axonal neuropathy10.4
26propionic acidemia10.4
27argininosuccinic aciduria10.4
28isovaleric acidemia10.4
29lesch-nyhan syndrome10.4
30status epilepticus10.4
31tetralogy of fallot10.4
32tetanus neonatorum10.4
33oculocutaneous albinism10.4
342-hydroxyglutaric aciduria10.4
35galactosemia10.4
36intracranial hypertension10.4
37lactic acidosis10.4
38neuropathy10.4
39tetanus10.4
40albinism10.4
41hyperphenylalaninemia10.4
42aminoaciduria10.4
43myoclonus10.4
44spasticity10.4
45memory impairment10.4
46blindness10.4
472-methylacetoacetyl coa thiolase deficiency10.1
48thiolase deficiency10.1
49methylmalonic acidemia10.0
50metabolic acidosis9.8HMGCL, DLD

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

About this section


Clinical features from OMIM:

248600

Drugs & Therapeutics for Maple Syrup Urine Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Maple Syrup Urine Disease

Search NIH Clinical Center for Maple Syrup Urine Disease

Genetic Tests for Maple Syrup Urine Disease

About this section

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

About this section

MalaCards organs/tissues related to Maple Syrup Urine Disease:

32
Brain, Liver, Testes, Cortex, Skin, Whole blood, Cerebellum, Spinal cord

Animal Models for Maple Syrup Urine Disease or affiliated genes

About this section

Publications for Maple Syrup Urine Disease

About this section

Articles related to Maple Syrup Urine Disease:

(show top 50)    (show all 505)
idTitleAuthorsYear
1
Successful domino liver transplantation in maple syrup urine disease using a related living donor. (24770567)
2014
2
Structural white matter changes in adolescents and young adults with maple syrup urine disease. (23355088)
2013
3
Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population. (23412862)
2013
4
Imaging in neonatal maple syrup urine disease. (22865353)
2013
5
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation. (22350544)
2012
6
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
7
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
8
Classical maple syrup urine disease and brain development: principles of management and formula design. (20061171)
2010
9
The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease. (19688253)
2009
10
Social outcome in adults with maple syrup urine disease (MSUD). (17310329)
2007
11
Restoration of brain stem auditory-evoked potential in maple syrup urine disease. (17414178)
2007
12
Domino liver transplantation in maple syrup urine disease. (16628687)
2006
13
Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model. (16518628)
2006
14
Maple syrup urine disease presenting with neonatal status epilepticus: report of one case. (14674232)
2003
15
Stimulation of lipid peroxidation in vitro in rat brain by the metabolites accumulating in maple syrup urine disease. (11894849)
2002
16
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
17
Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease. (11507102)
2001
18
Computed tomography findings in maple syrup urine disease. (9844500)
1998
19
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
20
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
21
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease. (9296536)
1997
22
Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer. (7782943)
1995
23
Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. (7567243)
1995
24
An asymptomatic variant of maple syrup urine disease without organic aciduria. (8051917)
1994
25
Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method. (8306450)
1993
26
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
27
Maple syrup urine disease in Poll Shorthorn calves. (1642599)
1992
28
Acute illness in maple syrup urine disease: dynamics of protein metabolism and implications for management. (2066856)
1991
29
Maple syrup urine disease (branched chain ketoaciduria). (2356868)
1990
30
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
31
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
32
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
33
Branched-chain alpha-keto acids for the diagnosis of maple-syrup-urine disease. (3821846)
1987
34
Maple syrup urine disease as a cause of spongiform encephalopathy in calves. (3529596)
1986
35
Absence of branched chain acyl-transferase as a cause of maple syrup urine disease. (3980729)
1985
36
First-trimester diagnosis of maple syrup urine disease on intact chorionic villi. (4069174)
1985
37
Scoliosis and maple syrup urine disease. (6693558)
1984
38
Cerebral edema in maple syrup urine disease. (7091101)
1982
39
Antenatal diagnosis of maple syrup urine disease. (518415)
1979
40
Trace element disturbances in dietetically treated patients with phenylketonuria and maple syrup urine disease. (732826)
1978
41
Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts. (985377)
1976
42
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
43
Letter: Historical observation in maple syrup urine disease. (4419958)
1974
44
Maple syrup urine disease: report of a case. (4443061)
1974
45
Maple syrup urine disease variant. Report of a case. (5084379)
1972
46
Atypical case of leucinosis (maple syrup urine disease). (5100310)
1971
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

About this section

Expression for genes affiliated with Maple Syrup Urine Disease

About this section
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

About this section

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 biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.5DBT, BCKDHB, BCKDHA, DLD
2
Show member pathways
L-cysteine degradation I37
2-oxoisovalerate decarboxylation to isobutanoyl-CoA37
cysteine biosynthesis III (mammalia)37
2-oxobutanoate degradation I37
8.5DBT, BCKDHB, BCKDHA, DLD
3
Show member pathways
7.9HMGCL, DLD, BCKDHA, BCKDHB, DBT
4
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
7.9HMGCL, DLD, BCKDHA, BCKDHB, DBT

Compounds for genes affiliated with Maple Syrup Urine Disease

About this section
Sources:
24HMDB, 44Novoseek, 11DrugBank
See all sources

Compounds related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
13-Methyl-1-hydroxybutyl-ThPP2410.0BCKDHB, BCKDHA
22-Methyl-1-hydroxypropyl-ThPP2410.0BCKDHB, BCKDHA
33-Methyl-2-oxovaleric acid2410.0BCKDHA, BCKDHB
4Alpha-ketoisovaleric acid249.8BCKDHA, BCKDHB
5lipoamide44 2410.6DLD, BCKDHA
6S-(2-Methylbutanoyl)-dihydrolipoamide249.5BCKDHA, DBT, BCKDHB
7S-(3-Methylbutanoyl)-dihydrolipoamide-E249.5DBT, BCKDHB, BCKDHA
8S-(2-Methylpropionyl)-dihydrolipoamide-E249.5DBT, BCKDHB, BCKDHA
92-Ketobutyric acid249.5BCKDHB, BCKDHA
10Pentanoyl-CoA249.5BCKDHA, BCKDHB, DBT
11Nonanoyl-CoA249.5DBT, BCKDHB, BCKDHA
12Lauroyl-CoA249.5DBT, BCKDHB, BCKDHA
13Isovaleryl-CoA249.5DBT, BCKDHB, BCKDHA
14Undecanoyl-CoA249.5DBT, BCKDHB, BCKDHA
15trans-Octadec-2-enoyl-CoA249.5DBT, BCKDHB, BCKDHA
16Tetracosanoyl-CoA249.5DBT, BCKDHB, BCKDHA
17Isobutyryl-CoA249.5DBT, BCKDHB, BCKDHA
18Butyryl-CoA249.5DBT, BCKDHB, BCKDHA
192-Methylhexanoyl-CoA249.5DBT, BCKDHB, BCKDHA
202-methylbutyryl-coa44 2410.5DBT, BCKDHB, BCKDHA
21Decanoyl-CoA (n-C10:0CoA)249.5BCKDHA, BCKDHB, DBT
22Hexanoyl-CoA249.5DBT, BCKDHB, BCKDHA
23Glutaconyl-CoA249.5DBT, BCKDHB, BCKDHA
24Eicosanoyl-CoA249.5DBT, BCKDHB, BCKDHA
253Z-dodecenoyl-CoA249.4DBT, BCKDHB, BCKDHA
26octanoyl-coa44 2410.4DBT, BCKDHB, BCKDHA
27Acrylyl-CoA249.4BCKDHB, DBT, BCKDHA
28Crotonoyl-CoA249.4BCKDHA, BCKDHB, DBT
29hypothiocyanite44 2410.4DLD, BCKDHA, BCKDHB
30Pristanoyl-CoA249.4BCKDHA, BCKDHB, DBT
31carbon dioxide44 2410.4BCKDHB, BCKDHA, DLD
32trans-2-Hexenoyl-CoA249.4BCKDHA, BCKDHB, DBT
33(2E)-Tetradecenoyl-CoA249.4DBT, BCKDHA, BCKDHB
34dihydrolipoamide44 2410.4DLD, DBT
35(2E)-Decenoyl-CoA249.4BCKDHA, BCKDHB, DBT
36(2E)-Dodecenoyl-CoA249.4BCKDHA, BCKDHB, DBT
37(2E)-Octenoyl-CoA249.4BCKDHA, BCKDHB, DBT
38(2E)-Hexadecenoyl-CoA249.4DBT, BCKDHB, BCKDHA
39stearoyl-coa44 2410.3DBT, BCKDHB, BCKDHA
40Coenzyme A24 1110.3DLD, DBT
41Propionyl-CoA249.3DBT, BCKDHB, BCKDHA
42thiamine pyrophosphate44 2410.3BCKDHB, BCKDHA
43Heptanoyl-CoA249.3DBT, BCKDHB, BCKDHA
44Palmityl-CoA249.3DBT, BCKDHB, BCKDHA
45Heptadecanoyl CoA249.2DBT, BCKDHB, BCKDHA
46pyruvate448.9DLD, BCKDHB, DBT
47acetyl-coa44 249.4DBT, BCKDHB, BCKDHA, DLD, HMGCL

GO Terms for genes affiliated with Maple Syrup Urine Disease

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Maple Syrup Urine Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet