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GENATLAS PHENOTYPE
last update : 04-07-2016
Symbol WKS
Location 3p14.3
Name Wernicke-Korsakoff syndrome
Other name(s) transketolase defect
Corresponding gene TKT
Main clinical features
  • thiamine responsive, alcohol-induced encephalopathy
  • acute encephalopathy followed by chronic impairment of short-term memory.; early treatment with high doses of thiamine stabilizes the disease
  • inborn error of metabolism that is clinically important only when the diet is inadequate in thiamine
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name transketolase (TKT)
    Remark(s)