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

Preferred term

Porphyrias, Hepatic  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Entry terms

  • Hepatic Porphyria
  • Porphyria, Hepatic

Note

  • do not confuse with PORPHYRIA, ERYTHROHEPATIC

Scope note

  • A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.

History note

  • 2005 (1993)

In other languages

URI

http://www.yso.fi/onto/mesh/D017094

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