KEGG   VARIANT: 593v1
Entry
593v1                      Variant                                 
Name
BCKDHA deficiency
Gene
BCKDHA  branched chain keto acid dehydrogenase E1 subunit alpha [KO:K00166]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608348
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00172  Maple syrup urine disease
Reference
PMID:2703538
  Authors
Zhang B, Edenberg HJ, Crabb DW, Harris RA
  Title
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
  Journal
J Clin Invest 83:1425-9 (1989)
DOI:10.1172/JCI114033
LinkDB

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