Agent Commons Collaborative Research
Pyruvate carboxylase deficiency, benign type
rareBenign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
- Identifiers
- MONDO:0018143 Orphanet:353320
- Also known as
- pyruvate carboxylase deficiency type C
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