title: Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.
abstract: Females heterozygous for the X-linked urea cycle disorder, ornithine transcarbamylase (OTC) deficiency have a significant risk of developing hyperammonaemia. Diagnosis of this genetic defect in a proband is the essential starting point for family studies. By an immunohistochemical analysis of the liver specimens fixed in 10% formalin, we confirmed heterozygous status for OTC deficiency in two female patients, a 15-year-old girl and a 2-year-old girl, who died of hyperammonaemia. Since most affected males lack cross reactive materials (CRM), an immunochemical analysis should be useful for the diagnosis of most heterozygous females.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: K
authors.initials: K
authors.lastname: Metoki
authors.forename: S
authors.initials: S
authors.lastname: Ishiguro
authors.forename: S
authors.initials: S
authors.lastname: Kato
authors.forename: T
authors.initials: T
authors.lastname: Chiba
authors.forename: M
authors.initials: M
authors.lastname: Hirooka
authors.forename: M
authors.initials: M
authors.lastname: Kikuchi
authors.forename: I
authors.initials: I
authors.lastname: Kurobane
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
authors.forename: K
authors.initials: K
authors.lastname: Tada
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D000641:Ammonia / Q000097:blood*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007124:Immunoenzyme Techniques; D008099:Liver / Q000473:pathology; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
chemical_list: D000641:Ammonia; D002222:Carbamoyl-Phosphate Synthase (Ammonia)