Catalog

Phosphoenolpyruvate carboxykinase deficiency

No MMS code

Link to WHO Definition

Phosphoenolpyruvate carboxykinase deficiency – http://id.who.int/icd/entity/1350463176

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. Autopsy 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).