Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family.

Abstract

A child with a diagnosis of late-infantile metachromatic leukodystrophy (MLD), and a normal father with low arylsulfatase A (ASA) activity in leucocytes 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. It is thus possible to discriminate between these two forms of low ASA activity in this family, and to ensure a correct diagnosis should the amniotic fluid cells show a low ASA activity in future pregnancies.

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@article{Tnnesen1983MetachromaticLA, title={Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family.}, author={T\onne T\onnesen and Philippe Bro and Karen Br\ondum Nielsen and Claus Lykkelund}, journal={Acta paediatrica Scandinavica}, year={1983}, volume={72 2}, pages={175-8} }