MSUD
MCID: MPL001
MIFTS: 62

Maple Syrup Urine Disease (MSUD) malady

Metabolic diseases, Nephrological diseases categories

Summaries for Maple Syrup Urine Disease

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 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 brain, liver and testes, 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:63 Maple syrup urine disease (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

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 46OMIM, 56SNOMED-CT, 39NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

maple syrup urine disease 8 19 42 20 22 21 10 44 60
bckd deficiency 19 42 21
msud 19 42 21
branched-chain alpha-keto acid dehydrogenase deficiency 42 21
branched chain ketoaciduria 8 42
branched-chain ketoaciduria 19 21
branched-chain ketoacid dehydrogenase deficiency 19
keto acid decarboxylase deficiency 42
maple syrup disease 19
ketoacidaemia 8
ketoacidemia 21


External Ids:

Disease Ontology8 DOID:9269
MeSH34 D008375
OMIM46 248600
SNOMED-CT56 27718001
NCIt39 C34806
ICD1025 E71.0

Related Diseases for Maple Syrup Urine Disease

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17GeneCards, 18GeneDecks
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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 72)
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
6lactic acidosis30.5DLD, BTD, HADHA
7propionic acidemia30.5OTC, HMGCL, MMD
8hepatitis30.5OTC, GLUD1
9methylmalonic acidemia29.9HMGCL, MMD
10alpha chain disease11.2
11maple syrup urine disease type 211.0
12brain disease11.0
13cerebritis10.9
14liver disease10.8
15maple syrup urine disease type 1a10.7
16maple syrup urine disease type 1b10.7
17peritonitis10.6
18hair disease10.6
19ophthalmoplegia10.6
20neurologic diseases10.6
21maple syrup urine disease type 310.6
22maple syrup urine disease, mild variant10.6
23dihydrolipoamide dehydrogenase deficiency10.6
24acrodermatitis10.5
25congenital hypothyroidism10.5
26acrodermatitis enteropathica10.5
27dermatitis10.5
28hypothyroidism10.5
29leukocyte disease10.5
30pancreatitis10.5
31skin disease10.5
32corneal disease10.3
33marfan syndrome10.3
34axonal neuropathy10.3
35status epilepticus10.3
36lesch-nyhan syndrome10.3
37tetanus neonatorum10.3
38coats disease10.3
39wernicke encephalopathy10.3
40citrullinemia10.3
41neuronitis10.3
42tetralogy of fallot10.3
432-hydroxyglutaric aciduria10.3
44central nervous system disease10.3
45cerebral palsy10.3
46chromosomal disease10.3
47galactosemia10.3
48glucose metabolism disease10.3
49hypertension10.3
50intracranial hypertension10.3

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

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46OMIM
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Clinical features from OMIM:

248600

Drugs & Therapeutics for Maple Syrup Urine Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Maple Syrup Urine Disease

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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

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32MalaCards
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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

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36MGI
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MGI Mouse Phenotypes related to Maple Syrup Urine Disease:

36
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

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50PubMed
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Articles related to Maple Syrup Urine Disease:

(show top 50)    (show all 494)
idTitleAuthorsYear
1
MRI findings of adult maple syrup urine disease exacerbation. (23419580)
2013
2
Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect. (23137711)
2013
3
Biochemical correlates of neuropsychiatric illness in maple syrup urine disease. (23478409)
2013
4
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. (21844576)
2011
5
Classical maple syrup urine disease and brain development: principles of management and formula design. (20061171)
2010
6
Neurocognitive profile in a case of maple syrup urine disease. (20204917)
2010
7
Typical neuroradiological diagnosis of maple syrup urine disease as a precursor to clinical diagnosis. A case report. (24209402)
2009
8
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). (19699299)
2009
9
Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India. (17715290)
2007
10
Morphological alterations and cell death provoked by the branched-chain alpha-amino acids accumulating in maple syrup urine disease in astrocytes from rat cerebral cortex. (16133938)
2005
11
Branched-chain alpha-keto acids accumulating in maple syrup urine disease induce reorganization of phosphorylated GFAP in C6-glioma cells. (16167198)
2005
12
Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration. (15115568)
2004
13
An early diagnosis leads to a good prognosis: a patient with maple syrup urine disease--screened by tandem mass spectrometry. (15868812)
2004
14
Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: report of one case. (12607485)
2002
15
Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease. (12465829)
2002
16
Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. (10745006)
2000
17
Peculiar odor of traditional food and maple syrup urine disease. (10200148)
1999
18
Assessment of whole body L-leucine oxidation by noninvasive L-[1-13C]leucine breath tests: a reappraisal in patients with maple syrup urine disease, obligate heterozygotes, and healthy subjects. (9585004)
1998
19
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. (9621512)
1998
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
Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with maple syrup urine disease. (8741119)
1996
22
An asymptomatic variant of maple syrup urine disease without organic aciduria. (8051917)
1994
23
A dermatitis secondary to amino-acid deficiency in treated maple syrup urine disease. (7802785)
1994
24
Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method. (8306450)
1993
25
Nasogastric drip feeding as the only treatment of neonatal maple syrup urine disease. (8337030)
1993
26
Gene analysis of maple syrup urine disease (MSUD)]. (8350511)
1993
27
Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. (8489211)
1993
28
Determination of (S)- and (R)-2-oxo-3-methylvaleric acid in plasma of patients with maple syrup urine disease. (1638756)
1992
29
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. (2022752)
1991
30
Effects of abnormal metabolites of maple syrup urine disease on neurotransmitter receptor binding. (3013257)
1986
31
Myelin proteins: degradation in rat brain initiated by metabolites causative of maple syrup urine disease. (6411085)
1983
32
Cranial computed tomography in a patient with a variant form of maple syrup urine disease. (6877525)
1983
33
Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures. (7081220)
1982
34
Outcome of early and long-term management of classical maple syrup urine disease. (6798541)
1981
35
Monoamine oxidase and catechol-o-methyltransferase activity in cultured fibroblasts from patients with maple syrup urine disease, Lesch-Nyhan syndrome and healthy controls. (761415)
1979
36
Trace element disturbances in dietetically treated patients with phenylketonuria and maple syrup urine disease. (732826)
1978
37
Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids. (868873)
1977
38
Maple syrup urine disease. Thiamin responsive branched chain aminoaciduria: a unique case in an adult: (case report). (914742)
1977
39
Heterogeneity in maple syrup urine disease: aspects of cofactor requirement and complementation in cultured fibroblasts. (192504)
1977
40
Control of pyruvate and beta-hydroxybutyrate utilization in rat brain mitochondria and its relevance to phenylketonuria and maple syrup urine disease. (987160)
1976
41
Variant maple syrup urine disease in mother and daughter. (4730202)
1973
42
Transaminations between amino acids and keto acids elevated in phenylketonuria and maple syrup urine disease. (4698286)
1973
43
Maple syrup urine disease variant. Report of a case. (5084379)
1972
44
Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases. (5010106)
1972
45
Maple syrup urine disease variant--amino acid pattern and problems of treatment during acute attacks. (5277001)
1970
46
The treatment of maple syrup urine disease. (5804198)
1969
47
Maple syrup urine disease. (5645967)
1968
48
The therapy of maple syrup urine disease. (6015908)
1967
49
MAPLE SYRUP URINE DISEASE: A CASE REPORT. (14348251)
1965
50
Maple syrup urine disease. (13696537)
1961

Genetic Variations for Maple Syrup Urine Disease

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Expression for genes affiliated with Maple Syrup Urine Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maple Syrup Urine Disease

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Pathways for genes affiliated with Maple Syrup Urine Disease

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Compounds for genes affiliated with Maple Syrup Urine Disease

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Maple Syrup Urine Disease according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1norvaline44 1111.5OTC, GLUD1
2hypothiocyanite44 2411.5DLD, BCKDHA, BCKDHB
3lipoamide44 2411.5BCKDHA, DLD
4glutaryl-coa44 2411.4DLD, DLST
5alpha-ketoisocaproate4410.4BCAT2, GLUD1
63-methylcrotonyl-coa44 2411.4BTD, HADHA
7dihydrolipoamide44 2411.4DLD, DLST, DBT
8Lipoic Acid11 2411.3DLST, DBT
9carbon dioxide44 2411.3ALDH6A1, BCKDHB, BCKDHA, DLD
10acetyl-l-carnitine4410.3HADHA, OTC
11Coenzyme A11 2411.2DBT, DLD, ALDH6A1
12gamma-hydroxybutyrate4410.2CHKB, GLUD1
13alpha-ketoglutarate4410.2GLUD1, DLST, DLD
142-methylbutyryl-coa44 2411.2HADHA, DBT, BCKDHA, BCKDHB, ALDH6A1
15octanoyl-coa44 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
21malate4410.2OTC, GLUD1, HSPE1
22stearoyl-coa44 2411.2HADHA, DBT, BCKDHA, BCKDHB, ALDH6A1
23carnitine4410.2HADHA, CHKB, GLUD1, OTC
24beta-hydroxybutyrate4410.1CHKB, GLUD1
25thiamine pyrophosphate44 2411.1BCKDHB, BCKDHA
26ornithine44 2411.1CHKB, GLUD1, SLC7A5, OTC
27nad28 2411.0HADHA, GLUD1, DLD, ALDH6A1
28urea44 11 2412.0HSPE1, CHKB, GLUD1, OTC
29citrate4410.0HSPE1, HADHA, CHKB, GLUD1
30nadh44 11 2412.0HADHA, GLUD1, DLD, ALDH6A1
31acyl-coa4410.0HSPE1, HADHA, GLUD1, BTD, OTC
32lysine449.9HADHA, CHKB, GLUD1, BTD, OTC
33glutamine449.9HADHA, CHKB, GLUD1, SLC7A5, OTC
34fatty acid449.9HADHA, CHKB, DBT, GLUD1, BTD, OTC
35carbamoyl phosphate449.8GLUD1, OTC
36creatinine449.8HSPE1, HADHA, CHKB, GLUD1, OTC
37leucine449.7CHKB, GLUD1, HMGCL, SLC7A5, OTC, BCAT2
38alanine449.7HADHA, CHKB, GLUD1, BTD, DLD, SLC7A5
39acetyl-coa44 2410.7HADHA, DBT, GLUD1, DLD, HMGCL, BCKDHA
40lactate449.6HSPE1, HADHA, CHKB, GLUD1, BTD, DLD
41arginine449.6OTC, SLC7A5, BTD, GLUD1, CHKB
42glucose449.5HSPE1, HADHA, CHKB, GLUD1, BTD, SLC7A5
43cysteine449.4HSPE1, CHKB, GLUD1, BTD, HMGCL, SLC7A5
44serine449.2HSPE1, HADHA, DBT, GLUD1, BTD, DLD
45pyruvate449.1BCKDHB, HSPE1, HADHA, CHKB, DBT, GLUD1

GO Terms for genes affiliated with Maple Syrup Urine Disease

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16Gene Ontology
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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet