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Human Disease

pyruvate carboxylase deficiency disease

Term ID
DOID:3651
Synonyms
  • deficiency of pyruvic carboxylase
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:3651 )
Relationships
is a type of
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Genes Involved
Zebrafish Models