pyruvate carboxylase deficiency, severe neonatal type
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.
MONDO:0009949
pyruvate carboxylase deficiency disease
is_a
pyruvate carboxylase deficiency type B
exact