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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 | 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. | Source: | PubMed, pmid4414475 | Services: | Forum | Review | Favorites |
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