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GENATLAS PHENOTYPE

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

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