1. Sandhoff disease: Diagnosis of heterozygous carriers by serum hexosaminidase assay
- Author
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Togari Hajime, Koizumi Yukio, Suzuki Yoshiyuki, and Ogawa Yukqsuke
- Subjects
Adult ,Heterozygote ,Protein Denaturation ,Hot Temperature ,Clinical Biochemistry ,Sandhoff disease ,Biology ,Lipidoses ,Biochemistry ,Chromatography, DEAE-Cellulose ,Diagnosis, Differential ,Methods ,medicine ,Humans ,Hexosaminidase ,Child ,chemistry.chemical_classification ,Biochemistry (medical) ,Low activity ,Infant ,Heterozygote advantage ,General Medicine ,medicine.disease ,Molecular biology ,Hexosaminidases ,Heat inactivation ,Spectrometry, Fluorescence ,Enzyme ,chemistry ,Evaluation Studies as Topic ,Child, Preschool ,Hexosaminidase activity ,Carbohydrate Metabolism, Inborn Errors - Abstract
1. (1) A batch-wise fractionation of hexosaminidases with DEAE-cellulose gave consistent and reproducible results. The ratio of the A and B enzymes by this method was slightly higher than that by the heat inactivation method. 2. (2) Investigations on obligate and possible carriers of Sandhoff disease revealed a characteristic serum hexosaminidase pattern; low total hexosaminidase activity with relative preservation of component A. This was well contrasted with low activity of component A and normal total activity in Tay-Sachs disease heterozygotes.
- Published
- 1973
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