pyruvate carboxylase deficiency, infantile form
MONDO:0018141Mondo
Findings
No curated finding names pyruvate carboxylase deficiency, infantile form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
Definition from the Mondo Disease Ontology (MONDO:0018141), 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, infantile form
- Also called
- pyruvate carboxylase deficiency type A