Summary
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.
This is a preview of subscription content, log in via an institution to check access.
References
D'Azzo A, Hoogeveen A, Reuser AJJ, Robinson D, Galjaard H (1982) Molecular defect in combined β-galactosidase and neuraminidase deficiency in man. Proc. Natl Acad Sci 79:4535–4539
Goto I, Nakai H, Tabira T, Shinno N, Tanaka Y, Shibasaki H, Kuroiwa Y (1983) Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis? J Neurol 229:45–54
Goto I, Kobayashi T, Antoku Y, Tobimatsu S, Kuroiwa Y (1986) Adrenoleukodystrophy and variants: clinical, neurophysiological and biochemical studies in patients and family members. J Neurol Sci 72:103–112
Igarashi M, Schaumburg HH, Powers J, Kishimoto Y, Kolodny E, Suzuki K (1976) Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 26:851–860
Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA (1981) Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci 78:5066–5070
Moser HW, Moser AE, Singh I, O'Neill BP (1984) Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis and therapy. Ann Neurol 16:628–641
Naylor SL, Elliott RW, Brown JA, Shows TB (1982) Mapping of aminoacylase-1 and β-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes. Am J Hum Genet 34:235–244
Sakuraba H, Aoyagi T, Suzuki Y (1982) Galactosialidosis (β-galactosidase-neuraminidase deficiency): a possible role of serinethiol proteases in the degradation of β-galactosidase molecules. Clin Chim Acta 125:275–282
Suzuki S, Kitaguchi T, Tabira T, Goto I, Kuroiwa Y (1983) Adrenoleukodystrophy presenting as spinocerebellar degeneration. Clin Neurol 23:678–682
Yoshimura T, Kobayashi T, Kato M, Goto I, Kuroiwa Y (1985) A case of adrenoleukodystrophy and a carrier with decreased activity of β-galactosidase. Clin Neurol 25:601–605
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Goto, I., Yoshimura, T., Kobayashi, T. et al. Adrenoleukodystrophy and beta-galactosidase deficiency: Patient and carrier. J Neurol 233, 306–308 (1986). https://doi.org/10.1007/BF00314164
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00314164