pyruvate carboxylase deficiency disease

A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly with symptoms of periodic lactate elevations, gastrointestinal upset, n

A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly with symptoms of periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.

Signs and symptoms

• Global developmental delay
• Hypotonia
• Lactic acidosis
• Increased circulating pyruvate concentration
• Increased circulating lactate concentration
• Hepatomegaly
• Neuronal loss in the cerebral cortex
• Periventricular leukomalacia
• Leukodystrophy
• Intellectual disability

Also known as: deficiency of pyruvic carboxylase