Rare types of porphyrias

Porphyrias information
5-Aminolevulinic acid (ALA) dehydratase defect porphyria is a very rare type of porphyria that is caused by severe deficiency of 5-aminolevulinic acid dehydratase, the second enzyme of the heme biosynthetic pathway. It is inherited in autosomal recessive fashion, and fewer than 10 cases have been reported. The disease manifests itself in childhood and is usually associated with severe neurologic abnormalities suggestive of acute porphyric attacks. No effective therapy is known. Heme therapy or liver transplantation has had little effect on clinical course.
Porphyrias that are inherited in autosomal dominant fashion and thus are manifested in the heterozygous state may rarely occur in homozygous forms. Homozygous cases of variegate porphyria and hereditary coproporphyria have been described. Onset is in childhood, with presenting manifestations of severe photosensitivity and nonspecific neurologic symptoms. No specific treatments have been reported.
Hepatoerythropoietic porphyria is a homozygous form of porphyria cutanea tarda. The disease manifests itself in early childhood with severe skin problems that may lead to scarring and mutilation as in congenital erythropoietic porphyria. No effective treatment has been reported. According to one report, phlebotomy had no effect on porphyrin excretion or skin lesions.

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