KEGG   VARIANT: 1737v1
Entry
1737v1                      Variant                                
Name
DLAT deficiency
Type
Loss of function
Gene
DLAT  dihydrolipoamide S-acetyltransferase [KO:K00627]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608770
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H01999  Pyruvate dehydrogenase E2 deficiency
Reference
PMID:16049940
  Authors
Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK
  Title
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
  Journal
Ann Neurol 58:234-41 (2005)
DOI:10.1002/ana.20550
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