Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyria.
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.
Gross
U
U
Division of Clinical Biochemistry, Philipps University Hospital, Marburg, Germany. Ulrich.Gross@aranea.de
Sassa
S
S
Arndt
T
T
Doss
M O
MO
D000293:Adolescent; D006801:Humans; D008297:Male; D000623:Porphobilinogen Synthase / Q000097:blood / Q000172:deficiency*; D011164:Porphyrias / Q000201:enzymology*; D017741:Survivors
D000623:Porphobilinogen Synthase