NDLI: Description of a New Mutation in Hepatoerythropoietic Porphyria and Prenatal Exclusion of a Homozygous Fetus

Content Provider	JAMA Network
Author	Ged, Cécile Ozalla, D. Herrero, C. Lecha, M. Mendez, M. Verneuil, H. de Mascaro, J. M.
Copyright Year	2002
Abstract	Background: Hepatoerythropoietic porphyria ( HEP) is usually a severe form of cutaneous porphyria, characterized biochemically by an increased urinary excretion of polycarboxylated porphyrins. The disease is the result of a profound deficiency (<10% of normal activity) of uroporphyrinogen decarboxylase ( UROD) activity. Hepatoerythropoietic porphyria is inherited as an autosomal recessive trait, whereas familial porphyria cutanea tarda is dominant. At least 30 different mutations of the: URODgene have been identified in patients with HEP and familial porphyria cutanea tarda, with 1 predominant missense mutation (glycine–to–glutamic acid substitution at codon 281) in Spanish patients with HEP. Observation: A 5-year-old patient with first-degree–related parents presented with HEP and mild symptomatology. We found low levels of UROD enzymatic activity and a new homozygous mutation of the: URODgene, a phenylanine-to-leucine substitution at codon 46 ( F46L). Both parents were healthy carriers of the mutation. The mother had reduced UROD activity (50% of normal), whereas the father had normal UROD activity. Prokaryotic expression of the F46L mutation using a p: GEX vector has been used to confirm the deleterious effect of the mutation. When the mother started a new pregnancy, a prenatal study showed the absence of F46L mutation in the fetus and no accumulation of porphyrins in the amniotic fluid. Conclusions: A new mutation in the: URODgene causes a mild HEP phenotype. A normal UROD enzymatic activity was observed in the father, despite the presence of the heterozygous mutation. To our knowledge, this observation is the first description of a prenatal exclusion of HEP.
Ending Page	960
Starting Page	957
Page Count	4
File Format	PDF HTM / HTML
ISSN	0003987X
DOI	10.1001/archderm.138.7.957
Issue Number	7
Journal	Archives of Dermatology
Volume Number	138
Language	English
Publisher	American Medical Association
Publisher Date	2002-07-01
Access Restriction	Open
Subject Keyword	fetus homozygote mutation hepatoerythropoietic porphyria prenatal care de novo mutation leucine porphyrins codon nucleotides uroporphyrinogen decarboxylase type ii porphyria cutanea tarda porphyrias genes glutamic acid glycine mothers amniotic fluid parent
Content Type	Text
Resource Type	Article
Subject	Dermatology

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