pyruvate carboxylase deficiency, benign type
MONDO:0018143Mondo
Findings
No curated finding names pyruvate carboxylase deficiency, benign type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Benign 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.
Definition from the Mondo Disease Ontology (MONDO:0018143), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PCHGNC:8636
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: pyruvate carboxylase deficiency, benign type
- Also called
- pyruvate carboxylase deficiency type C