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  • Title: Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.
    Author: Hayasaka K, Metoki K, Ishiguro S, Kato S, Chiba T, Hirooka M, Kikuchi M, Kurobane I, Narisawa K, Tada K.
    Journal: Eur J Pediatr; 1987 Jul; 146(4):370-2. PubMed ID: 3308467.
    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.
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