Literature DB >> 2317449

Homozygous variegate porphyria: a case report.

P G Norris1, G H Elder, J L Hawk.   

Abstract

Homozygous variegate porphyria is described in a 14-year-old girl with a unique clinical presentation of photosensitivity from the second year of life, mental retardation, clinodactyly, and normal growth rate. The erythrocyte protoporphyrin concentration was raised with the protoporphyrin being predominantly zinc-chelated, which appears to be characteristic for all homozygous hepatic porphyrias. Protoporphyrinogen oxidase activity in lymphoblasts was decreased in both patient and parents despite the latter having normal porphyrin excretion.

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Year:  1990        PMID： 2317449     DOI： 10.1111/j.1365-2133.1990.tb08272.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  4 in total

Review 1.  Hepatic porphyrias in children.

Authors:  G H Elder
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 2.  Homozygous variegate porphyria: an evolving clinical syndrome.

Authors:  R J Hift; P N Meissner; G Todd; P Kirby; D Bilsland; P Collins; J Ferguson; M R Moore
Journal:  Postgrad Med J       Date:  1993-10       Impact factor: 2.401

3.  Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

Authors:  J Frank; H Lam; E Zaider; M Poh-Fitzpatrick; A M Christiano
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

Review 4.  A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.

Authors:  Mohammad Vafaee-Shahi; Saeide Ghasemi; Aina Riahi; Zahra Sadr
Journal:  Ital J Pediatr       Date:  2022-02-14       Impact factor: 2.638
  4 in total

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