These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
    Author: Huang JL, Zaider E, Roth P, Garcia O, Pollack S, Poh-Fitzpatrick MB.
    Journal: J Am Acad Dermatol; 1996 May; 34(5 Pt 2):924-7. PubMed ID: 8621830.
    Abstract:
    Blistering of light-exposed skin, pink-stained fluorescing diapers, and fluorescing peripheral erythrocytes led to diagnosis of congenital porphyria in an infant born to consanguineous parents. Although massive coproporphyrinuria and coproporphyrinemia initially suggested a coproporphyrinogen oxidase deficiency disorder, excess porphyrins were chiefly of the isomer I series, implicating a uroporphyrinogen III synthase defect. Congenital erythropoietic porphyria was confirmed by demonstration of a profound defect in the activity of the infant's uroporphyrinogen III synthase (4% of the mean value for nine normal controls) and in both parents at approximately 50% of the mean normal activity. Coinheritance of gene defects for either hereditary coproporphyria or erythropoietic protoporphyria in addition to those for congenital erythropoietic porphyria was excluded by demonstrating normal activities of both coproporphyrinogen oxidase and ferrochelatase in the infant. The complicated perinatal and postnatal clinical course and biochemical and enzyme assay data for the infant and his parents are described.
    [Abstract] [Full Text] [Related] [New Search]