Molecular analysis of Japanese patients with metachromatic leukodystrophy

Y. Hasegawa, H. Kawame, Y. Eto

Research output: Contribution to journalArticlepeer-review


Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by a deficiency of arylsulfatase A (ASA). Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. To investigate the molecular basis of Japanese patients with MLD, we examined ten Japanese patients for the presence of three known ASA mutations. The results indicate quite different distribution of these mutations between Caucasian and Japanese patients with MLD. We have performed further analysis on ASA gene of Japanese MLD patients, and identified two new mutations. Phenotype-genotype relationship in Japanese patients with MLD is discussed.

Original languageEnglish
Pages (from-to)2314-2318
Number of pages5
JournalNippon rinsho. Japanese journal of clinical medicine
Issue number9
Publication statusPublished - 1993 Sept
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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