Human genes for pyruvate carboxylase deficiency disease
Pyruvate carboxylase deficiency disease [DOID:3651]
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom 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.
Synonyms: pyruvate carboxylase deficiency disease, DOID:3651, pyruvate carboxylase deficiency disorder, pyruvate carboxylase deficiency syndrome, pyruvate carboxylase deficiency diseases ...
Linkouts: OMIM