Phosphohydroxylysinuria

Synonym(s)
- 5-Phosphohydroxylysine phospholyase deficiency, AGXT2L2 deficiency
Type

Disease
External link(s)
- IEMbase
Gene
- PHYKPL / PHYKPL
  5q35.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoketolase like
Pathway
- Lysine, hydroxylysine, and tryptophan metabolism
Disease group(s)
- 1.8 Disorders of lysine, hydroxylysine, and tryptophan metabolism