Alpha-mannosidosis

Alpha-mannosidosis is an ultra-rare, inherited lysosomal storage disorder caused by pathogenic variants in the *MAN2B1* gene, resulting in a deficiency of the enzyme lysosomal alpha-mannosidase

Alpha-mannosidosis is an ultra-rare, inherited lysosomal storage disorder caused by pathogenic variants in the *MAN2B1* gene, resulting in a deficiency of the enzyme lysosomal alpha-mannosidase

Alpha-mannosidosis is an ultra-rare, inherited lysosomal storage disorder caused by pathogenic variants in the *MAN2B1* gene, resulting in a deficiency of the enzyme lysosomal alpha-mannosidase This enzymatic deficit leads to progressive, pathologic accumulation of mannose-rich oligosaccharides across tissues and organ systems Primarily presenting in pediatric patients and persisting into adulthood, the condition exhibits a spectrum of severity that can involve intellectual disability, sensorine...

This enzymatic deficit leads to progressive, pathologic accumulation of mannose-rich oligosaccharides across tissues and organ systems

Primarily presenting in pediatric patients and persisting into adulthood, the condition exhibits a spectrum of severity that can involve intellectual disability, sensorineural hearing loss, dysmorphic facial features, skeletal abnormalities (dysostosis multiplex), motor dysfunction, and immune deficiency with recurrent infections

Primarily presenting in pediatric patients and persisting into adulthood, the condition exhibits a spectrum of severity that can involve intellectual disability, sensorineural hearing loss, dysmorphic facial features, skeletal abnormalities (dysostosis multiplex), motor dysfunction, and immune deficiency with recurrent infections