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Case Reports
. 2001 Feb;24(1):60-4.
doi: 10.1023/a:1005610922789.

Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria

U Gross  1 , S Sassa, T Arndt, M O Doss
Affiliations
Case Reports

Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria

U Gross et al. J Inherit Metab Dis. 2001 Feb.

Abstract

The course of delta-aminolaevulinic acid dehydratase activity was studied over the 23 years in erythrocytes of two male patients. The enzyme activity was originally 1-2%, which then increased to approximately 8%, of normal levels several years after clinical manifestation of the acute hepatic porphyria syndrome. Urinary excretions of delta-aminolaevulinic acid and coproporphyrin III were excessively increased in the two patients with compound-heterozygous delta-aminolaevulinic acid dehydratase deficiency porphyria.

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