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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: 38 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

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

Experts

1. Herrero, C: 2 articles (09/2011 - 07/2002)
2. Mendez, M: 2 articles (07/2002 - 09/2000)
3. Ramanujam, Vaithamanithi-Mudumbai Sadagopa: 1 article (01/2015)
4. Anderson, Karl Elmo: 1 article (01/2015)
5. Thapar, Manish: 1 article (09/2014)
6. Liu, Lawrence: 1 article (09/2014)
7. McGuire, Brendan M: 1 article (09/2014)
8. Bowden, Christine: 1 article (09/2014)
9. Parker, Charles: 1 article (09/2014)
10. Singal, Ashwani K: 1 article (09/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hepatoerythropoietic Porphyria:
1. Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA
2. Heme (Haem)IBA
3. PorphyrinsIBA
4. Complementary DNA (cDNA)IBA
5. ProtoporphyrinsIBA
6. Hemoglobins (Hemoglobin)IBA
7. Enzyme Precursors (Zymogens)IBA
8. Porphobilinogen Synthase (delta-Aminolevulinate Dehydratase)IBA
9. Adenosine Diphosphate (ADP)IBA
10. CoproporphyriaIBA