Pyruvate carboxylase deficiency

(PC deficiency)

Type

Disease
External link(s)
Gene
- PC / Pyruvate Carboxylase
  11q13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate carboxylase
Pathway
- Glycolysis and gluconeogenesis
Disease group(s)
- 3.2 Disorders of gluconeogenesis
Child entries