Alpha‐mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation

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Abstract
Mannose containing oligosaccharides (OS) excreted in the urine of patients with .alpha.-mannosidosis were analyzed with high performance liquid chromatography (HPLC). The HPLC method provides a highly sensitive assay for detection of the urinary oligosaccharides and was employed for diagnosis of a 15-yr-old female with an unusually mild presentation of the disease. Dysostosis multiplex and coarse facies were absent; mental impairment was particularly mild. The elution profile of the urinary OS from this patient and 2, more severely affected, patients with mannosidosis were nearly identical, containing 9 major OS fractions. The concentrations of the OS were 8-fold lower in this patient but, when calculated relative to creatinine, the levels of the urinary OS of all patients were similar.