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ABSTRACT Ammonia intoxication is the clinical hallmark of X-linked ornithine transcarbamylase (OTC) deficiency. Hemizygous affected males have less residual OTC activity and more serious

clinical consequences than do heterozygous females. We now describe some immunochemical features of mutant OTC in affected males and females. A monospecific antiserum against purified bovine

hepatic OTC has been prepared in rabbits. Immunotitration shows that the antiserum can completely precipitate human OTC and that a given amount complexes bovine and human activity

comparably. We have employed this antiserum in an Ouchterlony double diffusion system and in a classical immune precipitation inhibition assay. This latter method consistently detects <1%

of control cross-reacting material (CRM). Livers from four affected males (OTC activities <0.1-10% of control) and two females (8 and 20%) have been studied with these techniques.

Whereas only the female with 20% of residual activity shows a precipitin line by the Ouchterlony technique, both females and the two males with the greatest residual activities (10 and 0.3%)

have detectable CRM by immune precipitation inhibition. In these four cases the percent of residual CRM approximates that of enzymatic activity. In the two males with enzymatic activity

<0.1%, no CRM has been found. The observed agreement between residual enzymatic activity and CRM may reflect structural gene mutations which alter the rate of degradation and/or synthesis

of OTC protein. The findings are equally consistent, however, with regulatory mutations controlling OTC synthesis. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Dept. Human

Genet., Yale U. Sch. Med., New Haven, CT John W Mcreynolds & Leon E Rosenberg Authors * John W Mcreynolds View author publications You can also search for this author inPubMed Google

Scholar * Leon E Rosenberg View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS

ARTICLE Mcreynolds, J., Rosenberg, L. IMMUNOCHEMICAL ANALYSES IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY. _Pediatr Res_ 11, 460 (1977). https://doi.org/10.1203/00006450-197704000-00539

Download citation * Issue Date: 01 April 1977 * DOI: https://doi.org/10.1203/00006450-197704000-00539 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this

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