[Trial of detection of female carriers for the ornithine-carbamyltransferase deficiency by the urine assay of crotic acid. Apropos of a family study].
Studies on the detection of female carriers of the gene responsible for ornithine carbamoyl transferase deficiency are reported. The method used was that described by Goldstein and is based on provoked acidemia after an oral protein overload. Transmission of the disease as a sex linked dominant was confirmed. The heterogeneity of the metabolic disorder is discussed.
D000641:Ammonia / Q000097:blood; D003404:Creatinine / Q000652:urine; D003593:Cytoplasm / Q000378:metabolism; D005260:Female; D005789:Genealogy and Heraldry; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine*; D011506:Proteins; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D011743:Pyrimidines / Q000378:metabolism; D012730:Sex Chromosomes
D011506:Proteins; D011743:Pyrimidines; D009963:Orotic Acid; D000641:Ammonia; D003404:Creatinine
Essai de dépistage des conductrices pour le déficit en ornithine-carbamyl-transférase par le dosage urinaire de l'acide orotique A propos d'une étude familiale