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Science 11 October 1974:
Vol. 186. no. 4159, pp. 155 - 156
DOI: 10.1126/science.186.4159.155
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Articles

Leukocyte Peroxidase Deficiency in a Family with a Dominant Form of Kuf's Disease

Donald Armstrong 1, Sandra Dimmitt 1, Diethelm H. Boehme 2, Stanley C. Leonberg Jr. 3, and Wolfgang Vogel 4

1 Clinical Research Laboratory, Hillcrest Medical Center, Tulsa, Oklahoma 74104
2 Department of Pathology, Veterans Administration Hospital, East Orange, New Jersey 07019
3 Department of Neurology, University of Pennsylvania Medical School, Philadelphia 19104
4 Jefferson Medical College, Department of Pharmacology, Philadelphia 19107

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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten disease.
L. Wolfe, N. Kin, R. Baker, S Carpenter, and F Andermann (1977)
Science 195, 1360-1362
   Abstract »    PDF »
Skin Punch Biopsy in the Diagnosis of Juvenile Neuronal Ceroid-Lipofuscinosis: A Comparison With Leukocyte Peroxidase Assay.
D. F. Farrell and S. M. Sumi (1977)
Arch Neurol 34, 39-44
   Abstract »    PDF »


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Science. ISSN 0036-8075 (print), 1095-9203 (online)