X-linked sideroblastic anemia type 1

Synonym(s)
- Delta-aminolevulinic acid synthase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ALAS2 / 5'-aminolevulinate synthase 2
  Xp11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 5'-aminolevulinate synthase 2, mitochondrial
Disease group(s)
- 17.1 Disorders of heme synthesis and porphyrias
Child entries
- X-linked protoporphyria