Abstract
Alpha-mannosidosis, a rare lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-mannosidase, results in accumulation of mannose-rich glycoproteins in the tissues and sequel...
Highlights
Alpha-mannosidosis disease is a rare autosomal recessive disorder caused by mutations in the MAN2B1 gene, resulting in a deficiency of the lysosomal enzyme alpha-mannosidase
This study helps to define the impact of alpha-mannosidosis on Health-related quality of life (HRQoL), disability level, and pain
Baseline values illustrate that a moderate level of disability was present in the overall alpha-mannosidosis patient population and that a greater level of disability and poorer overall health was present in adult versus pediatric patients
Summary
Alpha-mannosidosis disease is a rare autosomal recessive disorder caused by mutations in the MAN2B1 gene, resulting in a deficiency of the lysosomal enzyme alpha-mannosidase. Alpha-mannosidase deficiency blocks the degradation of glycoproteins, which results in the accumulation of mannose-rich oligosaccharides in all tissues; the progressive accumulation of oligosaccharides leads to impaired cell function and apoptosis. The typical clinical attributes of alpha-mannosidosis include coarse facial features, intellectual disability, ataxia, impaired hearing and speech, immune deficiency with recurrent infections, skeletal abnormalities, muscular pain, and weakness.[1] Most patients are diagnosed in their first or second decade of life with documentation of increased levels of mannose-rich oligosaccharides in urine, reduced activity of alpha-mannosidase in leukocytes, or 2 pathogenic mutations in MAN2B1
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Journal of Inborn Errors of Metabolism and Screening
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
