Disease-gene associations mined from literature

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