Human β‐mannosidase deficiency: Biochemical findings in plasma, fibroblasts, white cells and urine

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Abstract
Marked deficiencies of β-mannosidase activity were demonstrated in plasma, leukocytes, fibroblasts and urine of a patient with β-mannosidosis, similar deficiencies were observed in the proband's sibling. All other lysosomal enzymes measured, including sulphamidase, exhibited normal activity. Both parents showed reduced plasma and leukocyte β-mannosidase activity. Urinary glycosaminoglycan excretion was normal but TLC of urinary oligosaccharides revealed an abnormal band with the mobility of a disaccharide. This finding was confirmed by Bio-Gel P2 column chromatography. Further purification of this compound revealed two disaccharides, both of which yielded mannose and glucosamine following acid hydrolysis and mannose andN-acetylglucosamine following enzymic digestion. These two compounds are thought to be structural isomers of the disaccharide Manβ-GlcNAc.

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