has material basis in germline mutation in PC pyruvate carboxylase deficiency disease https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/pyruvate_carboxylase_deficiency OMIM:266150 MONDO:0009949 NANDO:2200519 SCTID:87694001 Pc deficiency ataxia with lactic acidosis 2 Orphanet:3008 DOID:3651 UMLS:C0034341 ataxia with lactic acidosis type II ataxia with lactic acidosis type 2 pyruvate carboxylase deficiency disease Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. Leigh syndrome due to PC deficiency Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency icd11.foundation:2047948460 GARD:0007512 pyruvate carboxylase deficiency EFO:1001142 MESH:D015324 NCIT:C85040 Leigh syndrome due to pyruvate carboxylase deficiency ICD9:277.89 MEDGEN:18801 disorder of gluconeogenesis