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Neuropediatrics 1971; 2(4): 461-469
DOI: 10.1055/s-0028-1091795
Original article

© 1971 by Thieme Medical Publishers, Inc.

The Biochemical Differentiation between Heterozygote Carriers of Metachromatic Leucodystrophy and Normal Persons

F. Gabreëls1 , K. Lamers1 , J. Kok1 , M. Loonen2 , E. Lommen2
  • 1Department of Neurology, University of Nijmegen, The Netherlands
  • 2Department of Pediatrics, University of Nijmegen, The Netherlands
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1970

1971

Publication Date:
18 November 2008 (online)

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The activity of the enzyme arylsulfatase A in the leucocytes of patients suffering from Metachromatic Leucodystrophy (MLD) and their families, has been studied using a modification of the method of Percy (a total of 5 patients and 34 relatives from four families). The enzyme activity was similarly determined in a group of 36 control subjects. The modified method makes it possible to recognise heterozygote carriers of MDL and the technique is thus of great value for genetic counselling and for studying genetic mechanism of the disease.

Metachromatic leucodystrophy - arylsulfatase A - carrier detection

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