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