Maple Syrup Urine Disease 2012

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Revision as of 12:23, 20 April 2012 by Kiening (talk | contribs) (Biochemical disease mechanism)

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 Kegg-pathway-marked.jpg

Mutations