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

• ICD10CM:E74.4
• MESH:D015324
• MIM:266150
• NCI:C85040
• SNOMEDCT_US_2023_03_01:87694001
• UMLS_CUI:C0034341

Ontology

Human Disease   ( DOID:3651 )