Hepatoerythropoietic Porphyria

An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.

Also Known As:

Porphyria, Hepatoerythropoietic; Erythrohepatic Porphyria; Erythrohepatic Porphyrias; Hepatoerythropoietic Porphyrias; Porphyrias, Erythrohepatic; Porphyrias, Hepatoerythropoietic; Porphyria, Erythrohepatic

Digestive System Diseases: 1068
- Liver Diseases: 42767
  - Hepatic Porphyrias: 341
    - Hepatoerythropoietic Porphyria: 43
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Hepatic Porphyrias: 341
      - Hepatoerythropoietic Porphyria: 43
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Genetic Skin Diseases: 51
    - Hepatic Porphyrias: 341
      - Hepatoerythropoietic Porphyria: 43
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Porphyrias: 1732
    - Hepatic Porphyrias: 341
      - Hepatoerythropoietic Porphyria: 43

J M Gonzalez-López Selected Research

J M Gonzalez-López Research Topics

Disease

Drug/Important Bio-Agent (IBA)