ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria.
ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria.
Mol Genet Metab. 2020 Jun;130(2):149-152. doi: 10.1016/j.ymgme.2020.04.001. Epub 2020 Apr 10.
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.
受α-甘露糖苷贮积症影响的个体表现出类似的临床症状，如呼吸道感染、骨骼变化等，与黏多糖贮积症（MPS）患者相似。α-甘露糖苷贮积症被认为是一种超罕见疾病，诊断测试通常也很有限。随着新型疗法的出现以及使用干血斑进行酶学和遗传学检测的便捷诊断测试（例如串联质谱法）的应用，对疾病的认识和了解可能会得到改善。在一项试点研究中，我们调查了 1010 份疑似患有 MPS 的个体的干血斑样本。在该研究队列中，158/1010 名个体的基因被确认为 MPS。进一步的生化和基因确认性检测α甘露糖苷酶，发现了 4 名最终被诊断为α-甘露糖苷贮积症的个体。这一意外的高数量患有α-甘露糖苷贮积症的个体表明，特别是在疑似患有 MPS 的患者中，迫切需要将这种罕见疾病纳入临床和诊断考虑。
