Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency, severe neonatal type
Definition
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.
Also known as pyruvate carboxylase deficiency type B — per MONDO