𝔖 Bobbio Scriptorium
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Adrenoleukodystrophy and beta-galactosidase deficiency: Patient and carrier

✍ Scribed by I. Goto; T. Yoshimura; T. Kobayashi; Y. Kuroiwa

Book ID
104718258
Publisher
Springer
Year
1986
Tongue
English
Weight
308 KB
Volume
233
Category
Article
ISSN
0340-5354

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✦ Synopsis

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.

πŸ“œ SIMILAR VOLUMES

Ξ²-Galactosidase deficiency in juvenile a
Ξ²-Galactosidase deficiency in juvenile and adult patients
✍ Yoshiyuki Suzuki; Norimasa Nakamura; Kazuko Fukuoka; Yukihiko Shimada; Masanori πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 590 KB

Six juvenile and adult patients with progressive neurological diseases and beta-galactosidase deficiency were reported. Any diseases known to date were denied. These cases together with ten case reports in the literature were reviewed and were classified into three groups from clinical and biochemic