A RYLSULFATASE A activity is deficient in metachromatic leukodystrophy (MLD, sulfatide lipidosis). The activity of this hydrolytic enzyme is low in brain, liver, and kidney tissue obtained post mortem and in the urine of living MLD patients.1-5 The deficiency of sulfatase A could explain some, if not all, of the excess of sulfatides in MLD. For example, it may be inferred from the findings of Mehl and Jatzkewitz that one result of a sulfatase A deficiency would be a deficient catabolism of sulfatides.6,7
MLD itself is not common, but it does enter into the differential diagnosis of a wide variety of other neurological diseases not only in childhood, but also in adult life.8 On clinical grounds alone, the early diagnosis of MLD is not always straight-for-ward, nor is it sometimes clear even after biopsies and other tests. Hence, there is a need for a practical, rapid, laboratory
AUSTIN J, ARMSTRONG D, SHEARER L, McAFEE D. Metachromatic Form of Diffuse Cerebral Sclerosis: VI. A Rapid Test for the Sulfatase A Deficiency in Metachromatic Leukodystrophy (MLD) Urine. Arch Neurol. 1966;14(3):259–269. doi:10.1001/archneur.1966.00470090031004
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