Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method
✍ Scribed by K. Hayasaka; K. Metoki; S. Ishiguro; S. Kato; T. Chiba; M. Hirooka; M. Kikuchi; I. Kurobane; K. Narisawa; K. Tada
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 665 KB
- Volume
- 146
- Category
- Article
- ISSN
- 0340-6997
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✦ Synopsis
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.