pyruvate carboxylase deficiency disease

pyruvate carboxylase deficiency disease

http://purl.obolibrary.org/obo/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. [ url:http://omim.org/entry/266150 http://purl.obolibrary.org/obo/ECO_0007636 url:https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency http://purl.obolibrary.org/obo/ECO_0007637 ]

Synonyms: deficiency of pyruvic carboxylase

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

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DOID:3651

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carbohydrate metabolic disorder
has symptom some failure to thrive
has symptom some seizure
disease has feature some pyruvate carboxylase deficiency disease

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