has material basis in germline mutation in
PC
pyruvate carboxylase deficiency disease
https://github.com/monarch-initiative/mondo/issues/4985
OMIM:266150
MONDO:0009949
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
GARD:7512
pyruvate carboxylase deficiency
EFO:1001142
MESH:D015324
NCIT:C85040
Leigh syndrome due to pyruvate carboxylase deficiency
deficiency of pyruvic carboxylase
ICD9:277.89
disorder of gluconeogenesis