Metachromatic leukodystrophy caused by a partial cerebroside sulfatase defect |
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Authors: | Hayato Kihara Arvan L Fluharty John S O'Brien Charles H Fish |
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Institution: | UCLA School of Medicine, Mental Retardation Research Center Group at Lanterman State Hospital, Pomona, CA;Department of Neurosciences, University of California at San Diego School of Medicine, La Jolla, CA;Fairview State Hospital, Costa Mesa, CA, U.S.A |
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Abstract: | A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylsulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with cerebroside sulfate. In contrast, cultured fibroblasts contained about 10-20% of normal arylsulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no cerebroside sulfatase activity. Growing fibroblasts in the cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A re-examination of the cerebroside sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or cholate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial cerebroside sulfatase defect in this atypical form of metachromatic leukodystrophy. |
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Keywords: | Arylsulfatase A atypical metachromatic leukodystrophy cerebroside sulfatase cerebroside sulfate loading test |
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