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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Abbreviations
- OTC:
-
ornithine transcarbamylase
- CRM:
-
cross reactive materials
- RFLPs:
-
restriction fragment length polymorphisms
- CPS I:
-
carbamylphosphate synthetase I
References
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Hayasaka, K., Metoki, K., Ishiguro, S. et al. Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method. Eur J Pediatr 146, 370–372 (1987). https://doi.org/10.1007/BF00444940
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DOI: https://doi.org/10.1007/BF00444940