Premium
Homozygous acute intermittent porphyria in a 7‐year‐old boy with massive excretions of porphyrins and porphyrin precursors
Author(s) -
Hessels J.,
Voortman G.,
der Wagen A.,
der Elzen C.,
Scheffer H.,
Zuijderhoudt F. M. J.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000016613.75677.05
Subject(s) - porphobilinogen , acute intermittent porphyria , porphobilinogen deaminase , porphyria , medicine , metabolite , urine , endocrinology , porphyrin , excretion , urinary system , chemistry , biology , biochemistry
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.