MCID: MPL012
MIFTS: 53

Maple Syrup Urine Disease, Type Ii malady

Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases categories

Aliases & Classifications for Maple Syrup Urine Disease, Type Ii

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Maple Syrup Urine Disease, Type Ii, Aliases & Descriptions:

Name: Maple Syrup Urine Disease, Type Ii 45 10 60
Maple Syrup Urine Disease 45 9 19 41 20 21 11 43 47 22 60
Branched-Chain Ketoaciduria 19 41 21 47
Bckd Deficiency 19 41 21 47
Msud 19 41 21 47
Maple Syrup Urine Disease Type 1b 41 20 22
Maple Syrup Urine Disease Type 1a 41 20 22
Maple Syrup Urine Disease Type 2 41 20 22
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 41 21
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 41 47
Branched Chain Ketoaciduria 9 41
Bckdh Deficiency 41 47
Msud Due to Deficiency of E1-Beta Subunit of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 41
 
Branched-Chain Ketoacid Dehydrogenase Deficiency 19
Keto Acid Decarboxylase Deficiency 41
Maple Syrup Urine Disease, Type Ia 45
Maple Syrup Urine Disease, Type Ib 45
Maple Syrup Disease 19
Ketoacidaemia 9
Msud Type Ib 41
Msud Type 1a 41
Ketoacidemia 21
Msud Type 3 41
Msud Type 2 41
Ketonemia 60
Msud2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
maple syrup urine disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Italy),1-9/100000 (Tunisia),1-9/1000000 (Japan),1-9/100000 (Portugal),1-9/1000000 (Australia),1-9/1000000 (Taiwan, Province of China); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,late childhood


External Ids:

OMIM45 248600
Disease Ontology9 DOID:9269
MeSH33 D008375
NCIt38 C34806
ICD9CM27 270.3
SNOMED-CT55 27718001
Orphanet47 511
MESH via Orphanet34 D008375
ICD10 via Orphanet26 E71.0
UMLS via Orphanet61 C0024776, C0268576
ICD1025 E71.0

Summaries for Maple Syrup Urine Disease, Type Ii

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OMIM:45 Maple syrup urine disease caused by mutation in the E1-alpha subunit gene is referred to as MSUD type IA; that caused... (248600) more...

MalaCards based summary: Maple Syrup Urine Disease, Type Ii, also known as maple syrup urine disease, is related to classic maple syrup urine disease and cerebritis, and has symptoms including abnormality of the pharynx, stereotypic behavior and seizures. An important gene associated with Maple Syrup Urine Disease, Type Ii is BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide), and among its related pathways are Metabolism of amino acids and derivatives and Valine, leucine and isoleucine 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 bone and lung.

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: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.

NIH Rare Diseases:41 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

GeneReviews summary for msud

Related Diseases for Maple Syrup Urine Disease, Type Ii

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



Diseases related to maple syrup urine disease, type ii

Symptoms for Maple Syrup Urine Disease, Type Ii

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Symptoms by clinical synopsis from OMIM:

248600

Clinical features from OMIM:

248600

Symptoms:

 47 (show all 29)
  • unusual body odour
  • anomaly of the pharynx/pharyngeal anomaly
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • abnormal cry/voice/phonation disorder/nasal speech
  • abnormal odour of the urine
  • dystonia/torticollis/writer's cramp/blepharospasms
  • tics/stereotypias
  • hypotonia
  • areflexia/hyporeflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • repeat respiratory infections
  • recurrent urinary infections
  • ataxia/incoordination/trouble of the equilibrium
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hyperactivity/attention deficit
  • delirium/hallucination
  • pancreatitis
  • movement disorder
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • early death/lethality

HPO human phenotypes related to Maple Syrup Urine Disease, Type Ii:

(show all 39)
id Description Frequency HPO Source Accession
1 abnormality of the pharynx hallmark (90%) HP:0000600
2 stereotypic behavior hallmark (90%) HP:0000733
3 seizures hallmark (90%) HP:0001250
4 muscular hypotonia hallmark (90%) HP:0001252
5 reduced tendon reflexes hallmark (90%) HP:0001315
6 flexion contracture hallmark (90%) HP:0001371
7 abnormality of the voice hallmark (90%) HP:0001608
8 nausea and vomiting hallmark (90%) HP:0002017
9 respiratory insufficiency hallmark (90%) HP:0002093
10 aminoaciduria hallmark (90%) HP:0003355
11 reduced consciousness/confusion hallmark (90%) HP:0004372
12 cognitive impairment hallmark (90%) HP:0100543
13 recurrent urinary tract infections typical (50%) HP:0000010
14 hallucinations typical (50%) HP:0000738
15 chorea typical (50%) HP:0002072
16 recurrent respiratory infections typical (50%) HP:0002205
17 incoordination typical (50%) HP:0002311
18 hemiplegia/hemiparesis typical (50%) HP:0004374
19 attention deficit hyperactivity disorder typical (50%) HP:0007018
20 pancreatitis occasional (7.5%) HP:0001733
21 reduced bone mineral density occasional (7.5%) HP:0004349
22 autosomal recessive inheritance HP:0000007
23 hallucinations HP:0000738
24 intellectual disability HP:0001249
25 seizures HP:0001250
26 ataxia HP:0001251
27 muscular hypotonia HP:0001252
28 lethargy HP:0001254
29 coma HP:0001259
30 hypertonia HP:0001276
31 growth abnormality HP:0001507
32 pancreatitis HP:0001733
33 hypoglycemia HP:0001943
34 ketosis HP:0001946
35 vomiting HP:0002013
36 cerebral edema HP:0002181
37 lactic acidosis HP:0003128
38 elevated plasma branched chain amino acids HP:0008344
39 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Maple Syrup Urine Disease, Type Ii

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Drug clinical trials:

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Search NIH Clinical Center for Maple Syrup Urine Disease, Type Ii

Genetic Tests for Maple Syrup Urine Disease, Type Ii

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Genetic tests related to Maple Syrup Urine Disease, Type Ii:

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease20 22
2 Maple Syrup Urine Disease Type 1a20 22 BCKDHA
3 Maple Syrup Urine Disease Type 1b20 22 BCKDHB
4 Maple Syrup Urine Disease Type 220 22 DBT

Anatomical Context for Maple Syrup Urine Disease, Type Ii

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MalaCards organs/tissues related to Maple Syrup Urine Disease, Type Ii:

31
Bone, Lung

Animal Models for Maple Syrup Urine Disease, Type Ii or affiliated genes

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Publications for Maple Syrup Urine Disease, Type Ii

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Variations for Maple Syrup Urine Disease, Type Ii

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UniProtKB/Swiss-Prot genetic disease variations for Maple Syrup Urine Disease, Type Ii:

62 (show all 19)
id Symbol AA change Variation ID SNP ID
1BCKDHAp.Arg159TrpVAR_004968
2BCKDHAp.Gln190LysVAR_004969
3BCKDHAp.Ala253ThrVAR_004970
4BCKDHAp.Ile326ThrVAR_004971
5BCKDHAp.Tyr413CysVAR_004972
6BCKDHAp.Tyr438AsnVAR_004973
7BCKDHAp.Gly290ArgVAR_015101
8BCKDHAp.Phe409CysVAR_015102
9BCKDHAp.Thr211MetVAR_069748
10BCKDHAp.Ala220ValVAR_069749
11BCKDHAp.Arg346CysVAR_069750
12BCKDHBp.His206ArgVAR_004974
13BCKDHBp.Arg183ProVAR_024851rs28934895
14BCKDHBp.Gly278SerVAR_024852
15BCKDHBp.Arg170HisVAR_068348
16BCKDHBp.Gln346ArgVAR_068349
17DBTp.Phe276CysVAR_004978
18DBTp.Ile98MetVAR_015099
19DBTp.Gly384SerVAR_015100rs12021720

Clinvar genetic disease variations for Maple Syrup Urine Disease, Type Ii:

6
id Gene Variation 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
3PPM1KPPM1K, 2-BP DEL, 417TAdeletionPathogenic
4BCKDHBNM_000056.3(BCKDHB): c.1114G> T (p.Glu372Ter)single nucleotide variantPathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
5BCKDHBNM_000056.3(BCKDHB): c.832G> A (p.Gly278Ser)single nucleotide variantPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740

Expression for genes affiliated with Maple Syrup Urine Disease, Type Ii

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

Pathways for genes affiliated with Maple Syrup Urine Disease, Type Ii

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Pathways related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.5BCKDHA, BCKDHB, DBT
2
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
8.5BCKDHA, BCKDHB, DBT
3
Show member pathways
L-cysteine degradation I36
2-oxoisovalerate decarboxylation to isobutanoyl-CoA36
cysteine biosynthesis III (mammalia)36
2-oxobutanoate degradation I36
8.5BCKDHA, BCKDHB, DBT

Compounds for genes affiliated with Maple Syrup Urine Disease, Type Ii

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Sources:
24HMDB, 43Novoseek
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Compounds related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
13-Methyl-1-hydroxybutyl-ThPP249.8BCKDHB, BCKDHA
22-Methyl-1-hydroxypropyl-ThPP249.8BCKDHB, BCKDHA
33-Methyl-2-oxovaleric acid249.6BCKDHA, BCKDHB
4Alpha-ketoisovaleric acid249.5BCKDHA, BCKDHB
5hypothiocyanite43 2410.4BCKDHA, BCKDHB
62-Ketobutyric acid249.3BCKDHB, BCKDHA
7thiamine pyrophosphate43 2410.2BCKDHB, BCKDHA
8carbon dioxide43 2410.0BCKDHA, BCKDHB
9pyruvate439.0BCKDHB, DBT
10S-(2-Methylbutanoyl)-dihydrolipoamide248.9BCKDHA, DBT, BCKDHB
11S-(3-Methylbutanoyl)-dihydrolipoamide-E248.9DBT, BCKDHB, BCKDHA
12S-(2-Methylpropionyl)-dihydrolipoamide-E248.9DBT, BCKDHB, BCKDHA
13Pentanoyl-CoA248.9BCKDHA, BCKDHB, DBT
14Nonanoyl-CoA248.9DBT, BCKDHB, BCKDHA
15Lauroyl-CoA248.9DBT, BCKDHB, BCKDHA
16Isovaleryl-CoA248.9DBT, BCKDHB, BCKDHA
17Undecanoyl-CoA248.9DBT, BCKDHB, BCKDHA
18trans-Octadec-2-enoyl-CoA248.9DBT, BCKDHB, BCKDHA
19Tetracosanoyl-CoA248.9DBT, BCKDHB, BCKDHA
20Isobutyryl-CoA248.9DBT, BCKDHB, BCKDHA
21Butyryl-CoA248.9DBT, BCKDHB, BCKDHA
222-Methylhexanoyl-CoA248.9DBT, BCKDHB, BCKDHA
232-methylbutyryl-coa43 249.9DBT, BCKDHB, BCKDHA
24Decanoyl-CoA (n-C10:0CoA)248.9BCKDHA, BCKDHB, DBT
25Hexanoyl-CoA248.9DBT, BCKDHB, BCKDHA
26Glutaconyl-CoA248.9DBT, BCKDHB, BCKDHA
27Eicosanoyl-CoA248.9DBT, BCKDHB, BCKDHA
283Z-dodecenoyl-CoA248.9DBT, BCKDHB, BCKDHA
29octanoyl-coa43 249.9DBT, BCKDHB, BCKDHA
30Acrylyl-CoA248.9BCKDHB, DBT, BCKDHA
31Crotonoyl-CoA248.9BCKDHA, BCKDHB, DBT
32Pristanoyl-CoA248.8BCKDHA, BCKDHB, DBT
33trans-2-Hexenoyl-CoA248.8BCKDHA, BCKDHB, DBT
34(2E)-Tetradecenoyl-CoA248.8DBT, BCKDHA, BCKDHB
35(2E)-Decenoyl-CoA248.8BCKDHA, BCKDHB, DBT
36(2E)-Dodecenoyl-CoA248.8BCKDHA, BCKDHB, DBT
37(2E)-Octenoyl-CoA248.8BCKDHA, BCKDHB, DBT
38(2E)-Hexadecenoyl-CoA248.8DBT, BCKDHB, BCKDHA
39stearoyl-coa43 249.8DBT, BCKDHB, BCKDHA
40Propionyl-CoA248.8DBT, BCKDHB, BCKDHA
41Heptanoyl-CoA248.7DBT, BCKDHB, BCKDHA
42Palmityl-CoA248.7BCKDHA, BCKDHB, DBT
43Heptadecanoyl CoA248.7DBT, BCKDHB, BCKDHA
44acetyl-coa43 249.6DBT, BCKDHB, BCKDHA

GO Terms for genes affiliated with Maple Syrup Urine Disease, Type Ii

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Cellular components related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial alpha-ketoglutarate dehydrogenase complexGO:00059478.4BCKDHA, BCKDHB, DBT
2mitochondrionGO:00057398.0BCKDHA, BCKDHB, DBT, PPM1K
3mitochondrial matrixGO:00057597.7PPM1K, DBT, BCKDHB, BCKDHA

Biological processes related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442818.5BCKDHA, BCKDHB, DBT
2branched-chain amino acid catabolic processGO:00090838.4BCKDHA, BCKDHB, DBT
3cellular nitrogen compound metabolic processGO:00346418.2BCKDHA, BCKDHB, DBT

Molecular functions related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1carboxy-lyase activityGO:00168319.3BCKDHA, BCKDHB
2alpha-ketoacid dehydrogenase activityGO:00038269.2BCKDHA, BCKDHB
33-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:00038639.0BCKDHA, BCKDHB

Products for genes affiliated with Maple Syrup Urine Disease, Type Ii

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Sources for Maple Syrup Urine Disease, Type Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet