A variant form of metachromatic leukodystrophy without arylsulfatase deficiency

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Abstract
The clinical, pathological, and biochemical findings in a young woman with a new variant of metachromatic leukodystropy (MLD) are reported. The patient showed slow early development and deteriorated further during her first two decades. Nerve conductions were slow, and a sural nerve biopsy showed features of a sulfatide lipidosis. Urinary sulfatide excretion was comparable to that of patients with classic MLD, yet in vitro activity of arylsulfatase A and B and cerebroside sulfatase activity were normal. Skin fibroblasts cultured in medium supplemented with 3H‐labeled sulfatide showed accumulation of labeled sulfatide in large amounts, implying a defect in sulfatide hydrolysis in vivo in spite of intact enzyme activity in vitro.

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