pyruvate carboxylase deficiency, severe neonatal type (Q56014098)
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Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy
- Pyruvate carboxylase deficiency type B
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | pyruvate carboxylase deficiency, severe neonatal type |
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy |
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