R. Aquaron et al., ACUTE INTERMITTENT PORPHYRIA IN 2 MOROCCA N FAMILIES - CLINICAL AND BIOLOGICAL STUDIES, La Revue de medecine interne, 17(6), 1996, pp. 477-481
Three patients from Moroccan kindreds with acute intermittent porphyri
a (AIP) are described The propositus of family A originating from Mrir
t, Morocco, is living in Embrun, France. This 26 year-old woman who ex
perienced an acute attack with visceral manifestations presented an el
evated urinary level of 5-ALA and PBG, and a half-normal activity in p
orphobilinogen deaminase (PBG-D) in red blood cells (RBC). The family'
s survey was carried out by measuring the PBG-D activity in RBC (norma
l 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 ill 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 manifes
tations before the AIP diagnosis was evidenced by elevated urinary lev
el of 5-ALA and PBG, and showed a partial deficiency, approximately, 5
0%, of PBG-D activity in RBC. The youngest patient also presented a pe
ripheral neuropathy and recently died after surgery from an unknown re
ason at the age of 45.