[Acute intermittent porphyria in 2 Moroccan families. Clinical and biological study].
Three patients from Moroccan kindreds with acute intermittent porphyria (AIP) are described. The propositus of family A originating from Mrirt, Morocco, is living in Embrun, France. This 26 year-old woman who experienced an acute attack with visceral manifestations presented an elevated urinary level of 5-ALA and PBG, and a half-normal activity in porphobilinogen deaminase (PBG-D) in red blood cells (RBC). The family's survey was carried out by measuring the PBG-D activity in RBC (normal values = 125 +/- 40 U). Three of the 16 subjects tested, beside the propositus, were found to be asymptomatic carriers (PBG-D < 70 U). The two patients of family B, originating from Tetouan in the Rif area, were living in Bastia, Corsica. The two brothers, respectively 37 and 39 years old, had a long history (6 years) of neuropsychiatric manifestations before the AIP diagnosis was evidenced by elevated urinary level of 5-ALA and PBG, and showed a partial deficiency, approximately, 50%, of PBG-D activity in RBC. The youngest patient also presented a peripheral neuropathy and recently died after surgery from an unknown reason at the age of 45.
Aquaron
R
R
Laboratoire de biochimie et de biologie moléculaire, faculté de médecine, Marseille, France.
Zarrouck
K
K
el Boussaki
A
A
Acquaviva
J E
JE
D000328:Adult; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D009018:Morocco / Q000208:ethnology; D010375:Pedigree; D017118:Porphyria, Acute Intermittent / Q000097:blood / Q000150:complications / Q000235:genetics*
La porphyrie aiguë intermittente chez deux familles marocaines. Etude clinique et biologique.