KEGG   VARIANT: 1738v1
Entry
1738v1                      Variant                                
Name
DLD deficiency
Type
Loss of function
Gene
DLD  dihydrolipoamide dehydrogenase [KO:K00382]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 238331
Network
nt06024  Valine, leucine and isoleucine degradation
nt06031  Citrate cycle and pyruvate metabolism
nt06032  Lipoic acid metabolism
Disease
H02000  Dihydrolipoamide dehydrogenase deficiency
Reference
PMID:8506365
  Authors
Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS
  Title
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
  Journal
Proc Natl Acad Sci U S A 90:5186-90 (1993)
DOI:10.1073/pnas.90.11.5186
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