Pyruvate carboxylase deficiency, severe neonatal type

MONDO:0018142

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

0 clinical trials for this condition and its sub-types, 0 tagged with Pyruvate carboxylase deficiency, severe neonatal type itself.

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