Globoid Cell Leukodystrohy: The First Case with Antemortem Diagnosis in Japan

A Japanese boy was diagnosed as globoid cell leukody-strophy on the basis of a marked decrease in the galactocerebroside β-galactosidase activity in the leukocytes and the serum when one year and two months old. At autopsy when 1 year and 10 months, microscopic findings were characteristic for those...

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Bibliographic Details
Published in:	The Tohoku Journal of Experimental Medicine Vol. 115; no. 1; pp. 53 - 59
Main Authors:	WADA, YOSHIRO, ARAKAWA, TSUNEO, CHIDA, NOBUKAZU, ONUMA, AKIRA, NAKAGAWA, HIROSHI, IINUMA, KAZUIE, YOSHIMURA, YOZO, NAKAJIMA, SUSUMU, SUZUKI, YOSHIYUKI
Format:	Journal Article
Language:	English
Published:	Tohoku University Medical Press 1975
Subjects:	galactocerebroside β-galactosidase globoid cell leukodystrophy
Online Access:	Get full text
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Summary:	A Japanese boy was diagnosed as globoid cell leukody-strophy on the basis of a marked decrease in the galactocerebroside β-galactosidase activity in the leukocytes and the serum when one year and two months old. At autopsy when 1 year and 10 months, microscopic findings were characteristic for those of globoid cell leukodystrophy. Galactocerebroside β-galactosidase activities of leukocytes and sera of his father and mother were found to be half those of control subjects, thus it suggested the parents being heterozygotes of the disease.
ISSN:	0040-8727 1349-3329
DOI:	10.1620/tjem.115.53