Visualize Submit Comment
Metadata
ID DOID:3651
Name pyruvate carboxylase deficiency disease
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.
http://omim.org/entry/266150, https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency
Xrefs

ICD10CM:E74.4

MESH:D015324

NCI:C85040

OMIM:266150

SNOMEDCT_US_2020_09_01:87694001

UMLS_CUI:C0034341

Subsets

NCIthesaurus

Synonyms

deficiency of pyruvic carboxylase [EXACT]

Parent Relationships

is_a carbohydrate metabolic disorder

Add an item to the term tracker