Individuals affected by alpha-Mannosidosis suffer from similar clinical symptoms such as respiratory infections, skeletal changes as patients with mucopolysaccharidoses (MPS). α-Mannosidosis is considered as an ultra-rare disorders and also diagnostic testing is often limited. With the availability of novel therapies and easy-to-access diagnostic tests (e.g. Tandem mass spectrometry) using dried blood spots for both enzymatic and genetic testing, the chance for the development of a better understanding of disease and awareness may be triggered. In a pilot study, we have investigated 1010 residual dried blood spot samples from individuals suspicious to MPS. In these study cohort, 158/1010 individuals were genetically confirmed for MPS. Additional biochemical and genetic confirmatory testing for α-mannosidases revealed four individuals with a final diagnosis of α-mannosidosis. This unexpected high number of individuals with α-mannosidosis demonstrated the urgent need of taking this rare disorder in clinical and diagnostic consideration particularly in patients suspicious to MPS.

中文翻译：

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α-甘露糖苷病-患有“ MPS样”表型的个体被误诊的溶酶体贮积病。

受α-甘露糖苷病影响的个体与粘多糖贮积酶（MPS）患者一样遭受类似的临床症状，例如呼吸道感染，骨骼变化。α-甘露糖苷病被认为是一种极少见的疾病，而且诊断检测常常受到限制。随着使用干血斑进行酶和基因测试的新型疗法和易于获得的诊断测试（例如串联质谱）的可用性，可能会触发对疾病和认识的更好理解的发展机会。在一项初步研究中，我们调查了1010个来自可疑MPS个体的残留干血斑样品。在这些研究队列中，有158/1010个人在基因上被证实患有MPS。对α-甘露糖苷酶的其他生化和遗传确证测试显示，四名患者最终被确诊为α-甘露糖苷病。如此数量众多的意料之外的α-甘露糖苷病患者表明，迫切需要在临床和诊断中考虑这种罕见疾病，尤其是对MPS可疑的患者。