N-acetylneuraminate pyruvate lyase deficiency

Synonym(s)
- Sialic acid aldolase deficiency
Type

Disease
External link(s)
- IEMbase
Gene
- NPL / NPL
  1q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Neuropeptide-like protein
Disease group(s)
- 18.4.4 Disorders of sialic acid metabolism