Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2004;27(1):19-27.
doi: 10.1023/B:BOLI.0000016613.75677.05.

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

J Hessels  1 , G Voortman, A van der Wagen, C van der Elzen, H Scheffer, F M J Zuijderhoudt
Affiliations
Review

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

J Hessels et al. J Inherit Metab Dis. 2004.

Abstract

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Clin Chem Lab Med. 2002 Oct;40(10):1036-9 - PubMed
    1. J Inherit Metab Dis. 1990;13(5):673-83 - PubMed
    1. Clin Chem Lab Med. 2000 Mar;38(3):227-30 - PubMed
    1. Hum Genet. 1992 Apr;89(1):97-8 - PubMed
    1. Maandschr Kindergeneeskd. 1964 Dec;32:731-42 - PubMed

MeSH terms

LinkOut - more resources