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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-06-2020
Symbol PCKDC
Location 20q13.31
Name Phosphoenolpyruvate carboxykinase deficiency, cytosolic
Corresponding gene PCK1
Main clinical features
  • generalized seizures early due to severe hypoglycemia, frequent attacks of cyanosis and apnea, general retardation
  • recurrent episodes of illness- or fasting-related hypoglycemia, sometimes associated with significant lactic acidemia
  • early death
    Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease