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Adrenoleukodystrophy and beta-galactosidase deficiency: Patient and carrier.

Authors :
Goto, I.
Yoshimura, T.
Kobayashi, T.
Kuroiwa, Y.
Source :
Journal of Neurology; 1986, Vol. 233 Issue 5, p306-308, 3p
Publication Year :
1986

Abstract

A patient with adrenoleukodystrophy and his mother, a carrier, showed an elevated ratio of very long-chain fatty acids to long-chain fatty acids and decreased beta-galactosidase activity. Other lysosomal enzyme activities were normal except for the borderline level of arylsulfatase-A activity. However, the father and other patients with variant forms of adrenoleukodystrophy showed normal beta-galactosidase and other lysosomal enzyme activities. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03405354
Volume :
233
Issue :
5
Database :
Complementary Index
Journal :
Journal of Neurology
Publication Type :
Academic Journal
Accession number :
70449725
Full Text :
https://doi.org/10.1007/BF00314164