Difference between revisions of "Maple Syrup Urine Disease 2012"
From Bioinformatikpedia
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| − | ! subunit !! |
+ | ! subunit !! name !! chromosomal gene location !! MSUD-type |
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| + | | BCKDHA || Branched chain keto acid dehydrogenase E1, alpha polypeptide || 19q13.1-q13.2 || 1a |
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| − | | BCKDHA || Beispiel2 || Beispiel3 |
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| + | | BCKDHB || branched chain keto acid dehydrogenase E1, beta polypeptide || 6q14.1 || 1b |
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| − | | BCKDHB || Beispiel5 || Beispiel6 |
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| + | | DBT || Dihydrolipoamide branched chain transacylase E2 || 1p31 || 2 |
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| − | | DBT || Beispiel8 || Beispiel9 |
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| − | | DLT || |
+ | | DLT || dihydrolipoamide dehydrogenase || 7q31-q32 || 3 |
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Revision as of 13:38, 20 April 2012
Summary
place summary in here
Phenotype
Biochemical disease mechanism
MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits:
| subunit | name | chromosomal gene location | MSUD-type |
|---|---|---|---|
| BCKDHA | Branched chain keto acid dehydrogenase E1, alpha polypeptide | 19q13.1-q13.2 | 1a |
| BCKDHB | branched chain keto acid dehydrogenase E1, beta polypeptide | 6q14.1 | 1b |
| DBT | Dihydrolipoamide branched chain transacylase E2 | 1p31 | 2 |
| DLT | dihydrolipoamide dehydrogenase | 7q31-q32 | 3 |
