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The Biochemical Differentiation between Heterozygote Carriers of Metachromatic Leucodystrophy and Normal Persons
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1971
Year
Human GrowthGeneticsPathologyEnzyme Arylsulfatase ABioanalysisHematologyBiochemical GeneticsMetabolismClinical ChemistryEnzyme ActivityAutoimmune DiseaseBiochemistryDevelopmental EndocrinologyEndocrinologyNormal PersonsCellular EnzymologyBiochemical DifferentiationGenetic CounsellingHeterozygote CarriersMedicine
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.