OnlineIMD

17.1    Disorders of heme synthesis and porphyrias

  • Type
    Group
  • Disease group(s)
    • 17    Disorders of tetrapyrrole metabolism
  • Child entries
    • GATA1 deficiency
    • X-linked sideroblastic anemia type 1
    • Delta-aminolevulinic acid dehydratase deficiency
    • Acute intermittent porphyria
    • Congenital erythropoietic porphyria
    • Porphyria cutanea tarda
    • Coproporphyrinogen oxidase deficiency
    • Protoporphyrinogen oxidase deficiency
    • Ferrochelatase deficiency
    • Mitochondrial porphyrin transporter deficiency
    • Mitochondrial glycine transporter deficiency