pyruvate carboxylase deficiency disease
pyruvate carboxylase deficiency, severe neonatal type
https://github.com/monarch-initiative/mondo/issues/4985
pyruvate carboxylase deficiency type B
MONDO:0018142
GARD:17537
UMLS:CN204539
Orphanet:353314
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.