Genetics CME

In this online, self-learning activity:

Alpha-mannosidosis (AM) is a rare recessive lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It is caused by mutations in the MAN2B1 gene, leading to deficiency in alpha-mannosidase, a lysosomal enzyme involved in the oligosaccharide degradation pathway. While the exact prevalence of AM in the US is unknown, it has an estimated incidence of 1 in 500,000 live births worldwide. Laboratory indicators of AM often appear shortly after birth, followed by progression of clinical manifestations. While symptoms of AM vary considerably in individual presentations, three clinical subtypes have been identified (mild, moderate, and severe) and are used to guide disease prognosis and management. The current diagnostic algorithm for AM focuses on measuring alpha-mannosidase activity in leukocytes using colorimetry or fluorimetry. An alpha-mannosidase activity level of under 5% suggests AM, and a diagnosis is then confirmed with genetic sequencing.