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

Authors
Gross, U Sassa, S Arndt, T Doss, MO
Citation
U. Gross et al., Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria, J INH MET D, 24(1), 2001, pp. 60-64
Citations number
13
Categorie Soggetti
Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF INHERITED METABOLIC DISEASE
ISSN journal
01418955 → ACNP
Volume
24
Issue
1
Year of publication
2001
Pages
60 - 64
Database
ISI
SICI code
0141-8955(200102)24:1<60:SOTPWS>2.0.ZU;2-0
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 similar to8% of normal levels several years after clinical manifestation of the acute hepatic porphyria syndrome. Urinary excretions of delta -aminolaevulinic acid and coproporphy rin III were excessively increased in the two patients with compound-hetero zygous delta -aminolaevulinic acid dehydratase deficiency porphyria.