Journal of Inherited Metabolic Disease

, Volume 27, Issue 1, pp 19–27

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

  • J. Hessels
  • G. Voortman
  • A. van der Wagen
  • C. van der Elzen
  • H. Scheffer
  • F. M. J. Zuijderhoudt
Article

DOI: 10.1023/B:BOLI.0000016613.75677.05

Cite this article as:
Hessels, J., Voortman, G., van der Wagen, A. et al. J Inherit Metab Dis (2004) 27: 19. doi:10.1023/B:BOLI.0000016613.75677.05

Abstract

Summary: 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 δ-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.

Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • J. Hessels
    • 1
  • G. Voortman
    • 1
  • A. van der Wagen
    • 3
  • C. van der Elzen
    • 4
  • H. Scheffer
    • 4
  • F. M. J. Zuijderhoudt
    • 5
  1. 1.Clinical LaboratoryZiekenhuisgroep Twente, Streekziekenhuis Midden TwenteHengeloThe Netherlands
  2. 2.Klinisch Chemisch LaboratoriumDeventer ZiekenhuisDeventerThe Netherlands
  3. 3.Department of PaediatricsZiekenhuisgroep Twente, Streekziekenhuis Midden TwenteHengeloThe Netherlands
  4. 4.Laboratory for AntropogeneticsSt Radboud Academic HospitalNijmegenThe Netherlands
  5. 5.Clinical LaboratoryDeventer ZiekenhuisDeventerThe Netherlands

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