Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray J M, Munnich A
Clinique et Unité de Recherches de Génétique Médicale, INSERM U 12, Hôpital des Enfants Malades, Paris.
Ann Biol Clin (Paris). 1988;46(7):455-9.
Ornithine transcarbamylase (OTC) deficiency is an inborn error of urea cycle metabolism, responsible for lethal hyperammonemia in males and for severe symptoms in at least 20% of heterozygous females. The authors provide here additional data on the informativity of the protein loading test (PLT) for the detection of heterozygotes. They show that the risk of being a carrier for the mother of an affected boy falls from 2/3 a priori to only 1/8 if her PLT is negative. The risk for the mother of heterozygote girl falls from 1/2 a priori to 1/16 if her PLT is negative.
