Summary
Until recently, there have not been any confirmed reports ofβ-mannosidase deficiency in man. We have now analysed urine from two patients with confirmedβ-mannosidase deficiency and have found Man-β(1–4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine. These levels are at least 12 times higher than those found in patients with other lysosomal storage diseases. The method we report for this analysis requires only 0.1 ml of urine and uses a gas chromatograph, area ratio, calibration curve for the quantitative analysis.
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Tjoa, S., Wenger, D.A. & Fennessey, P.V. Quantitative analysis of disaccharides in the urine ofβ-mannosidosis patients. J Inherit Metab Dis 13, 187–194 (1990). https://doi.org/10.1007/BF01799685
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DOI: https://doi.org/10.1007/BF01799685