Mannosidosis- beta A- lysosomal
Overview
A very rare type of inherited glycoprotein storage disease where deficiency of an enzyme called beta-mannosidase results in a build-up of certain sugars (oligosaccharides) which can harm the body.
Symptoms
* Frequent respiratory infection * Coarse face * Mild bone disease * Mental retardation * Aggressiveness
Causes
* 2-Hydroxyglutaricaciduria * Absent patellae - scrotal hypoplasia * Acrofacial dysostosis Rodriguez type * Acromegaloid hypertrichosis syndrome * Angiokeratoma - mental retardation