Related MeSH Hierarchy (4)
Diseases [C] » Digestive System Diseases [C06] » Liver Diseases » Porphyrias, Hepatic
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » Porphyrias, Hepatic
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Porphyrias, Hepatic
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Porphyrias » Porphyrias, Hepatic
Description
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. MeSH
Hierarchy View
Subtype Terms (6)
Coproporphyria, Hereditary
1 approved drug
Porphyria, Acute Intermittent
11 drugs (9 approved, 2 experimental)
Porphyria Cutanea Tarda
3 approved drugs
Porphyria, Variegate
1 approved drug
Protoporphyria, Erythropoietic
8 drugs (6 approved, 2 experimental)
Organization Involved with Phase 3 Indications (3)
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UMLS Data
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