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Medical Subject Headings

Hae sanastosta

Sisällön kieli

Käsitteen tiedot

Digestive System Diseases > Liver Diseases > Porphyrias, Hepatic > Protoporphyria, Erythropoietic
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Porphyrias, Hepatic > Protoporphyria, Erythropoietic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Porphyrias, Hepatic > Protoporphyria, Erythropoietic
Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias > Porphyrias, Hepatic > Protoporphyria, Erythropoietic

Käytettävä termi

Protoporphyria, Erythropoietic  

Tyyppi

  • Topical Descriptor

Yläkäsite

Assosiatiiviset käsitteet

Ohjaustermit

  • Erythrohepatic Protoporphyria
  • Erythropoietic Protoporphyria

Huomautus

  • do not confuse with PORPHYRIA, ERYTHROPOIETIC

Käyttöhuomautus

  • An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.

Huomautus muutoshistoriasta

  • 2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004

Muunkieliset termit

URI

http://www.yso.fi/onto/mesh/D046351

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RDF/XML TURTLE JSON-LD Luotu 15.7.2004, viimeksi muokattu 11.4.2022