pyruvate carboxylase deficiency, severe neonatal type
MONDO:0018142Mondo
Findings
No curated finding names pyruvate carboxylase deficiency, severe neonatal type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018142), 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, severe neonatal type
- Also called
- pyruvate carboxylase deficiency type B