Hepatic porphyria

Definition:

Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic.

References:

[1]. H Puy, et al. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet. 1997 Jun;60(6):1373-83. [Content Brief]

[2]. J C Deybach, et al. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet. 1996 Mar;5(3):407-10. [Content Brief]

[3]. M Lecha, et al. Diagnosis and treatment of the hepatic porphyrias. Dermatol Ther. 2003;16(1):65-72. [Content Brief]

[4]. P Martasek, et al. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet. 1994 Mar;3(3):477-80. [Content Brief]

[5]. Raili Kauppinen, et al. Molecular diagnostics of acute intermittent porphyria. Expert Rev Mol Diagn. 2004 Mar;4(2):243-9. [Content Brief]

[6]. Yves Nordmann, et al. Human hereditary hepatic porphyrias. Clin Chim Acta. 2002 Nov;325(1-2):17-37. [Content Brief]

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