Beta-Mannosidase Deficiency and TS

Yet another case of TS associated with a metabolic disorder, this time with β-Mannosidase Deficiency (a genetic disorder).

Note that, this is a lysosomal disorder. I have posted about this type of disorders earlier, in connection with autophagy - autophagy process relies on the proper work of lysosomes to degrade captured intracellular material.

β-Mannosidase is a lysosomal enzyme that plays a role in the last step of oligosaccharide breakdown.

Its deficiency leads to the pathological accumulation of disaccharides composed of mannose and N-acetylglucosamine.

The 14 cases of β-mannosidosis reported so far exhibited various phenotypes, including mental retardation, behavioral disturbances, hearing loss, and recurrent airway infections.

Here, we report the first case, to our knowledge, of GTS in association with β-mannosidosis. (R1)

β-Mannosidase is coded by MANBA gene.