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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
Networked: 43 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Porphyria Cutanea Tarda
2. Porphyrias (Porphyria)
3. Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)
4. Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
5. Erythropoietic Protoporphyria

Experts

1. Desnick, Robert J: 2 articles (11/2019 - 05/2010)
2. Herrero, C: 2 articles (09/2011 - 07/2002)
3. Mendez, M: 2 articles (07/2002 - 09/2000)
4. Anderson, Karl E: 1 article (11/2019)
5. Chen, Brenden: 1 article (11/2019)
6. Nazarenko, Irina: 1 article (11/2019)
7. Weiss, Yedidyah: 1 article (11/2019)
8. Yasuda, Makiko: 1 article (11/2019)
9. Cuny, J-F: 1 article (02/2019)
10. Anderson, Karl Elmo: 1 article (07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hepatoerythropoietic Porphyria:
1. Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA
2. EnzymesIBA
3. Proteins (Proteins, Gene)FDA Link
4. Heme (Haem)IBA
5. PorphyrinsIBA
6. Carboxy-LyasesIBA
7. protoporphyrin IXIBA
8. MorpholinosIBA
9. Complementary DNA (cDNA)IBA
10. Oligonucleotide ProbesIBA