3.2.a

Disorders of heme synthesis and porphyrias

  • GATA1 deficiency
  • Delta-aminolevulinic acid synthase deficiency (X-linked recessive sideroblastic anemia type 1)
  • Delta-aminolevulinic acid synthase superactivity (X-linked protoporphyria)
  • Delta-aminolevulinic acid dehydratase deficiency
  • Porphobilinogen deaminase deficiency (Acute intermittent porphyria)
  • Uroporphyrinogen III synthase deficiency (Congenital erythropoietic porphyria; Gunther disease)
  • Uroporphyrinogen decarboxylase deficiency (Porphyria cutanea tarda type 2, dominant; hepatoerythropoietic porphyria, recessive)
  • Coproporphyrinogen oxidase deficiency (Hereditary coproporphyria)
  • Harderoporphyria
  • Protoporphyrinogen oxidase deficiency (Variegate porphyria)
  • Ferrochelatase deficiency (Erythropoietic protoporhyria)
  • Mitochondrial porphyrin transporter deficiency (Familial pseudohyperkalemia type 2; dyschromatosis universalis hereditaria type 3)

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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