METACHROMATIC LEUKODYSTROPHY AND PSEUDOARYLSULFATASE A DEFICIENCY IN A DANISH FAMILY

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Abstract
A child with a diagnosis of late-infantile metachromatic leukodystrophy (MLD), and a normal father with low arylsulfatase A (ASA) activity in leukocytes and cultured fibroblasts is described. The child had a pathologically increased amount of sulfatides in the urine, whereas no sulfatides could be found in the father''s urine. Sulfatide-loading of the child''s cultured fibroblasts showed an accumulation of sulfatides, whereas the fibroblasts from the father had a marginally decreased sulfatide turnover. These 2 forms of low ASA activity can be discriminated in this family, and a correct diagnosis can be ensured should the amniotic fluid cells show a low ASA activity in future pregnancies.