KEGG   VARIANT: 11019v1
Entry
11019v1                      Variant                               
Name
LIAS deficiency
Type
Loss of function
Gene
LIAS  lipoic acid synthetase [KO:K03644]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607031
Network
nt06032  Lipoic acid metabolism
Disease
H02438  Hyperglycinemia, lactic acidosis, and seizures
Reference
PMID:22152680
  Authors
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W
  Title
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
  Journal
Am J Hum Genet 89:792-7 (2011)
DOI:10.1016/j.ajhg.2011.11.011
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