Leukocyte Peroxidase Deficiency in a Family with a Dominant Form of Kuf's Disease
- 11 October 1974
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 186 (4159), 155-156
- https://doi.org/10.1126/science.186.4159.155
Abstract
Use of a spectrophotomtetric assay of peroxidase with p-phenylenediamine as cosubstrate demonstrated deficient enzymne activity in leukocytes from two patients with a dominantly inherited form of ceroid lipofuscinosis (Kuf's disease) and a clinically hlealthy unaffected sibling. When the reaction was performned in the absence of added hydrogen peroxide, oxidation of the p-phenylenediamnine cosubstrate (indicating the presence of endogenous peroxide) occurred only with enzyme samnples from the three siblings but not with those from a large number of unrelated, unaffected controls. This demonstrates that the deficiency of peroxide) found previously in the recessively inherited infantile and juvenile formns of ceroid lipofuscinosis (Batten-Spielmeyer-Vogt disease) is also present in an adult form with dominant inheritance.Keywords
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