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Monozygotic Twins With Presumed Metachromatic LeukodystrophyActivity of Arylsulfatase A in Serum of Patients and Family
Toshiaki Hashimoto, MD;
Hiroe Minato, MD;
Yashuhiro Kuroda, MD;
Kenji Toshima, MD;
Katsuaki Ohara, MD;
Masuhide Miyao, MD
Arch Neurol. 1978;35(10):689-691.
Abstract
Arylsulfatase A (ASA) activity in urine and serum was assayed on two 21-monthold monozygotic twins with presumed metachromatic leukodystrophy (MLD), their parents, and kin. The patients showed a marked reduction in ASA activity in both urine and serum.
The twins' parents and 11 kin, a total of 13 persons, were examined for ASA activity in serum, but it was not possible to delineate heterozygous carriers of MLD by the present study.
The assay of ASA activity in serum promises to be useful for diagnosis of MLD.
Author Affiliations
From the Department of Pediatrics, Tokushima (Japan) University School of Medicine.
Footnotes
Accepted for publication Oct 31, 1977.
Reprint requests to Department of Pediatrics, Tokushima University School of Medicine, 2chome Kuramoto-Machi, Tokushima City, Tokushima, Japan (Dr Hashimoto).
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