ⓘ Hereditary coproporphyria

                                     

ⓘ Hereditary coproporphyria

Hereditary coproporphyria is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified. Unlike acute intermittent porphyria, individuals with HCP can present with cutaneous findings similar to those found in porphyria cutanea tarda in addition to the acute attacks of abdominal pain, vomiting and neurological dysfunction characteristic of acute porphyrias. Like other porphyrias, attacks of HCP can be induced by certain drugs, environmental stressors or diet changes. Biochemical and molecular testing can be used to narrow down the diagnosis of a porphyria and identify the specific genetic defect. Overall, porphyrias rare diseases. The combined incidence for all forms of the disease has been estimated at 1:20.000. The exact incidence of HCP is difficult to determine, due to its reduced penetrance.

                                     
  • medical condition associated with this enzyme defect is called hereditary coproporphyria CPOX, the sixth enzyme of the haem biosynthetic pathway, converts
  • specific mutations in the CPOX gene. Mutations in CPOX usually cause hereditary coproporphyria an acute hepatic porphyria, however the K404E mutation in a homozygous
  • porphyria Porphyria cutanea tarda and Hepatoerythropoietic porphyria Hereditary coproporphyria Variegate porphyria Erythropoietic porphyria OMIM - PORPHYRIA
  • Capital Partners, a venture capital firm Healthcare professional Hereditary coproporphyria Himalayan Cataract Project Human Connectome Project Hydrocephalus
  • familial hepatoerythropoietic porphyria is more similar to type 2. Hereditary coproporphyria List of cutaneous conditions List of dental abnormalities associated
  • in the abdomen Reactive arthritis Acute intermittent porphyria Hereditary coproporphyria Variegate porphyria Dysuria at the US National Library of Medicine
  • aminolevulinic acid dehydratase deficiency porphyria ALAD and hereditary coproporphyria HCP These diseases primarily affect the nervous system, resulting
  • Harderoporphyrinuria Heart block, progressive nonprogressive Hereditary coproporphyria Hereditary nonpolyposis colorectal cancer HIV infection, susceptibility resistance
  • Hereditary carnitine deficiency Hereditary ceroid lipofuscinosis Hereditary coproporphyria Hereditary deafness Hereditary elliptocytosis Hereditary fibrinogen
  • skin within 2 4 days of light exposure. Variegate porphyria and hereditary coproporphyria can also exhibit symptoms of light - induced blisters. Sunlight
  • realizes Emmy lacks an enzyme that requires carbohydrates. She has hereditary coproporphyria The treatment is a diet rich in carbohydrates and glucose, but
  • 2 Other porphyria Acute intermittent porphyria ILDS E80.210 Hereditary coproporphyria ILDS E80.222 Variegate porphyria ILDS E80.230 Chester porphyria