Congenital Erythropoietic Porphyria
more about Congenital Erythropoietic Porphyria
Porphyria, acute intermittent porphyria, AIP, CEP, porphyria cutanea tarda, PCT, or coproporphyria ...
Alternate Names : Acute intermittent porphyria, Hereditary coproporphyria, Congenital erythropoietic porphyria, Erythropoietic protoporphyria
Definition ...
Erythropoietic porphyria (EP) is inherited as an autosomal recessive trait, and symptoms usually begin in childhood.
Hepatoerythropoietic porphyria
Deficiency of uroporphyrinogen decarboxylase
Skin blistering ...
Congenital Erythropoietic Porphyria
CNHD
Congenital Nonspherocytic Hemolytic Disease ...
Congenital erythropoietic porphyria
Risks
Veins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others.
Congenital erythropoietic porphyria
This is a very rare form of porphyria. It is also sometimes known as Günther's disease. Symptoms are usually first noticed in childhood. You may notice that your child's urine appears red in their nappies.
Congenital Erythropoietic Porphyria (4 images)
Congenital Ichthyosiform Erythroderma (7 images)
Congenital Phimosis (0 images)
Congenital Poikiloderma with Warty Hyperkeratosis (Dowling) (0 images)
Connective Tissue Nevus (8 images) ...
Hepatoerythropoietic porphyria (HEP) (See Porphyria)
Hepatoma (See Liver cancer)
Hepatopulmonary Syndrome
Hereditary coproporphyria (HCP) (See Porphyria)
Hereditary Focal Segmental Glomerulosclerosis (See Focal Segmental Glomerulosclerosis) ...
X-ray, PA, OGE, MDDRP, Dental Cavity Linings, Deoxycholic Acid, Sodium Salt, 12beta-Isomer, Erythropoietic Porphyria, Congenital, Estrogen Receptor Type II, Extradural Abscess, Spinal, Factor, Transforming Growth, Fasciculations, Neural, Flecainide, ...
In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria.
Congenital Erythropoietic Porphyria (CEP) is extremely rare and is inherited through an autosomal recessive trait. It is also known as Guenther Porphyria. The deficient enzyme is uroporphyrinogen III cosynthase.
Biochemist David Dolphin speculated in a 1985 speech that erythropoietic porphyria cases may have been the basis for vampire legends, due to the sufferers' sensitivity to light and strange appearance.
AllRefer Health - Porphyria (Acute Intermittent Porphyria, Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria)
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ACUTE PORPHYRIA ...
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood.… more…
Clinico-haematological Characteristics… ...
Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
Causes, incidence, and risk factors ...
What is Porphyrias?
Porphyrias, Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; and Erythropoietic protoporphyria.
Different types of cutaneous porphyria include ‘porphyria cutanea tarda' and ‘hepatoerythropoietic porphyria'.
Neurocutaneous porphyrias - the condition affects both the skin and the nervous system.
This skin damage is a prominent feature of several forms of porphyria including porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, and, particularly, congenital erythropoietic porphyria.
 See also: Porphyria, Deficiency, Porphyria cutanea tarda, Protoporphyria, Erythropoietic protoporphyria
  
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