Leukocyte peroxidase deficiency in a family with a dominant form of Kuf's disease.
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.
D000328:Adult; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008064:Lipidoses / Q000097:blood / Q000201:enzymology*; D008297:Male; D010084:Oxidation-Reduction; D010544:Peroxidases / Q000097:blood / Q000172:deficiency* / Q000378:metabolism; D010655:Phenylenediamines / Q000378:metabolism; D013577:Syndrome
D010655:Phenylenediamines; D010544:Peroxidases