title: 5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up.
abstract: 5-Aminolevulinic acid dehydratase (ALAD) activity in two patients with compound heterozygous 5-aminolevulinic acid dehydratase deficiency porphyria was studied over the last 20 years. The patients' enzyme activity was <10% from 1977 to 1997. An acute crisis in each patient was successfully treated by infusion of glucose and heme arginate. After this therapy both urinary 5-aminolevulinic acid (ALA) and total porphyrins were diminished to 65% in patient B. In patient H, ALA was decreased to 80%, and total porphyrins were reduced to 15% after treatment with heme arginate and glucose. The patients remained free of symptoms after this therapy. Family studies of patient B showed cross-reactive immunological material (CRIM), in which the maternal mutation is CRIM(+), whereas the paternal mutation is CRIM(-). Incubation of erythrocyte lysates with ALA decreased porphyrin formation, whereas incubation with porphobilinogen produced porphyrin concentrations within reference values in both patients, confirming that ALAD activity is rate-limiting in these cells.
authors.affiliation: Division of Clinical Biochemistry, Philipps University Hospital, Marburg, Germany. Ulrich.Gross@rhein-main.netsurf.de
authors.forename: U
authors.initials: U
authors.lastname: Gross
authors.forename: S
authors.initials: S
authors.lastname: Sassa
authors.forename: K
authors.initials: K
authors.lastname: Jacob
authors.forename: J C
authors.initials: JC
authors.lastname: Deybach
authors.forename: Y
authors.initials: Y
authors.lastname: Nordmann
authors.forename: M
authors.initials: M
authors.lastname: Frank
authors.forename: M O
authors.initials: MO
authors.lastname: Doss
mesh_terms: D000293:Adolescent; D000622:Aminolevulinic Acid / Q000652:urine; D001120:Arginine / Q000627:therapeutic use; D015415:Biomarkers / Q000652:urine; D004912:Erythrocytes / Q000201:enzymology / Q000378:metabolism; D005500:Follow-Up Studies; D005947:Glucose / Q000627:therapeutic use; D006418:Heme / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009154:Mutation; D000623:Porphobilinogen Synthase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D017118:Porphyria, Acute Intermittent / Q000097:blood / Q000201:enzymology* / Q000235:genetics / Q000652:urine; D011166:Porphyrins / Q000097:blood / Q000652:urine
chemical_list: D015415:Biomarkers; D011166:Porphyrins; D006418:Heme; D000622:Aminolevulinic Acid; D001120:Arginine; D000623:Porphobilinogen Synthase; D005947:Glucose; C048849:heme arginate