ISSN:
1432-1076
Keywords:
Ornithine transcarbamylase deficiency
;
Heterozygote
;
Immunohistochemical analysis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00444940
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