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A variant form of metachromatic leukodystrophy without arylsulfatase deficiency
Author(s) -
Hahn Angelika F.,
Gordon Bruce A.,
Feleki Vera,
Hinton George G.,
Gilbert Joseph J.
Publication year - 1982
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410120106
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , leukodystrophy , arylsulfatase , medicine , pathology , biology , biochemistry , disease , enzyme
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 3 H‐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.