Difference between revisions of "Maple Syrup Urine Disease 2012"
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== Biochemical disease mechanism == |
== Biochemical disease mechanism == |
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| + | 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: |
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| + | BCKDHA |
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| + | BCKDHB |
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| + | DBT |
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| + | DLT |
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[[File:Kegg-pathway-marked.jpg]] |
[[File:Kegg-pathway-marked.jpg]] |
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Revision as of 13:23, 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:
BCKDHA
BCKDHB
DBT
DLT
