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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Search NIH Clinical Center for Maple Syrup Urine Disease

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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
Pancreatitis in maple syrup urine disease -- a rare and easily overseen complication. (23382018)
2013
2
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
3
Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment. (23430881)
2012
4
Evaluation of acetylcholinesterase in an animal model of maple syrup urine disease. (22328136)
2012
5
Analysis of gene mutations in Chinese patients with maple syrup urine disease. (22727569)
2012
6
Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series. (20946191)
2011
7
Movement disorders in adult surviving patients with maple syrup urine disease. (21484869)
2011
8
Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease. (22145486)
2011
9
Molecular genetics of maple syrup urine disease in the Turkish population. (19480318)
2009
10
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). (18178665)
2008
11
Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles. (18088602)
2008
12
Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients. (18989748)
2008
13
Branched-chain amino acids accumulating in maple syrup urine disease induce morphological alterations in C6 glioma cells probably through reactive species. (17317075)
2007
14
Domino liver transplantation in maple syrup urine disease. (16628687)
2006
15
Newborn screening may fail to identify intermediate forms of maple syrup urine disease. (16830261)
2006
16
Morphological alterations and induction of oxidative stress in glial cells caused by the branched-chain alpha-keto acids accumulating in maple syrup urine disease. (16822590)
2006
17
Creatine and antioxidant treatment prevent the inhibition of creatine kinase activity and the morphological alterations of C6 glioma cells induced by the branched-chain alpha-keto acids accumulating in maple syrup urine disease. (16633902)
2006
18
Atypical phenotype in a boy with a maple syrup urine disease. (16601891)
2006
19
Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI. (14504844)
2004
20
Induction of oxidative stress in rat brain by the metabolites accumulating in maple syrup urine disease. (12927581)
2003
21
Stimulation of lipid peroxidation in vitro in rat brain by the metabolites accumulating in maple syrup urine disease. (11894849)
2002
22
Diffusion magnetic resonance imaging in intermediate form of maple syrup urine disease. (12380485)
2002
23
Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease. (11507102)
2001
24
Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. (11810125)
2001
25
Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study. (10221014)
1999
26
Diurnal changes in plasma amino acids in maple syrup urine disease. (9894823)
1998
27
Immunosuppressive effects of organic acids accumulating in patients with maple syrup urine disease. (7564237)
1995
28
Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease. (8312380)
1994
29
A case of maple syrup urine disease misdiagnosed as tetanus neonatorum on admission. (8091979)
1994
30
Is demyelination a feature of maple syrup urine disease? (8292212)
1993
31
Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. (8362810)
1993
32
Maple Syrup Urine Disease (20301495)
1993
33
Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex. (1434524)
1992
34
Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. (1898534)
1991
35
Maple syrup urine disease (branched chain ketoaciduria). (2356868)
1990
36
Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease. (2919111)
1989
37
New conjugated urinary metabolites in intermediate type maple syrup urine disease. (3677437)
1987
38
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity. (3080729)
1986
39
Newborn screening for maple syrup urine disease. (4020551)
1985
40
Maple syrup urine disease--therapeutic use of insulin in catabolic states. (6761134)
1982
41
Acidosis associated with dietotherapy of maple syrup urine disease. (7350316)
1980
42
Electroencephalograms in a case of maple syrup urine disease: their relation to serum levels of branched-chain amino acids. (982436)
1976
43
Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts. (1202420)
1975
44
Letter: Historical observation in maple syrup urine disease. (4419958)
1974
45
Maple syrup urine disease: coenzyme function and prenatal monitoring. (4857216)
1974
46
Hypoglycemia and maple syrup urine disease: defective gluconeogenesis. (4704742)
1973
47
Late-onset branched-chain ketoaciduria: (maple syrup urine disease). (5904649)
1966
48
MAPLE SYRUP URINE DISEASE. (14123637)
1964
49
THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE. (14044451)
1963
50
Maple syrup urine disease. (13733337)
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