Phosphoenolpyruvate carboxykinase deficiency (PEPCK deficiency)
Incidence
Very rare. Reported in 5 patients. No patients reported in Saudi Arabia. It is a very rare hereditary defect in gluconeogenesis.
Clinical Characteristics
60% pts die, difficult to control hypoglycemia. It is a lactic acidosis syndrome. There is hepatomegaly, epistaxis, hyperlipidemia. unexplained episodes of hyperpyrexia may occur. Renal tubular dysfunction, deteriorating liver function.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W, EB-liver, muscle. Liver biopsy shows microvesicular esteatosis and inflamatory changes.