Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
Publication year
2004Source
Journal of Inherited Metabolic Disease, 27, 1, (2004), pp. 19-27ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
Journal of Inherited Metabolic Disease
Volume
vol. 27
Issue
iss. 1
Page start
p. 19
Page end
p. 27
Subject
UMCN 5.1: Genetic defects of metabolismAbstract
A 7-year-old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow-brown teeth and dark red urine had excessively elevated levels of urinary delta-aminolevulinic acid, porphobilinogen and uroporphyrin. Furthermore hepta-, hexa-, penta- and copro(I)porphyrins were highly increased in urine. This pattern of porphyrin precursor and metabolite excretion is characteristic of acute intermittent porphyria. The decreased copro(III)/copro(I+III) ratio, normally not found in acute intermittent porphyria, is discussed. The porphobilinogen deaminase activity in red cells was decreased to 2-4%. Mutation analysis revealed a novel homozygous L81P mutation in exon 6 of the porphobilinogen deaminase gene. The father and mother, shown to be gene carriers of the same mutation, are asymptomatic and have normal urinary porphyrin precursor and metabolite excretion.
This item appears in the following Collection(s)
- Academic publications [202914]
- Faculty of Medical Sciences [80065]
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