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28 March 2024
 
  » pubmed » pmid4414475

 Article overview


Leukocyte peroxidase deficiency in a family with a dominant form of Kuf's disease
D Armstrong ; S Dimmitt ; D H Boehme ; S C Leonberg ; W Vogel ;
Date 11 Oct 1974
Journal Science, 186 (4159), 155-6
AbstractUse 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.
Source PubMed, pmid4414475
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