[Genetic counseling in ornithine carbamoyltransferase deficiency].
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood*; D002874:Chromosome Mapping; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors
D009963:Orotic Acid; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase
Contribution au conseil génétique dans le déficit en ornithine carbamyltransférase.