Beta-Mannosidosis
Pathogenesis (Lysosomal Storage Disorder)
- Beta-mannosidase dysfunction results in a build-up of disaccharides in lysosomes; it occurs from dysfunction of beta-mannosidase dysfunction break-down of mannose-containing disaccharides (sugars) within lysosomes.
Clinical
- Onset: Infancy – Adolescence
- Neurological manifestations: DIFFUSE. Cognitive Delay, Motor Impairment, Neuropsychiatric Manifestations, Peripheral Neuropathy
- Systemic manifestations: DIFFUSE. Upper Respiratory Infections, Characteristic Facial Features, Angiokeratomas.
Genetics
- MANBA gene mutation.
- Autosomal recessive.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov