KEGG   VARIANT: 5160v1
Entry
5160v1                      Variant                                
Name
PDHA1 deficiency
Type
Loss of function
Gene
PDHA1  pyruvate dehydrogenase E1 subunit alpha 1 [KO:K00161]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300502
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H01997  Pyruvate dehydrogenase E1-alpha deficiency
Reference
PMID:2537010
  Authors
Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S
  Title
Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.
  Journal
Am J Hum Genet 44:358-64 (1989)
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