ICD-11 definition : Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a metabolic disorder resulting
from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported
in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure
to thrive, lactic acidosis and hypoglycaemia. Autoposy reveals fatty infiltration
of both the liver and kidneys. The disorder is transmitted as an autosomal recessive
trait and caused by impairment of either cytosolic PEPCK (Phosphoenolpyruvate carboxykinase
1 (Pepck1) deficiency) or mitochondrial PEPCK (phosphoenolpyruvate carboxykinase 2
(Pepck2) deficiency).;
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a metabolic disorder resulting
from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported
in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure
to thrive, lactic acidosis and hypoglycaemia. Autoposy reveals fatty infiltration
of both the liver and kidneys. The disorder is transmitted as an autosomal recessive
trait and caused by impairment of either cytosolic PEPCK (Phosphoenolpyruvate carboxykinase
1 (Pepck1) deficiency) or mitochondrial PEPCK (phosphoenolpyruvate carboxykinase 2
(Pepck2) deficiency).