Beta-Mannosidosis

Definition

Definition of Beta-Mannosidosis
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a rare autosomal recessive form of mannosidosis associated with MANBA.

Symptoms

Symptoms of Beta-Mannosidosis
An affected kid is born with what looks like cerebral palsy. The kid is unable to stand or to hold up its head, and it shakes if it tries to do anything (intentional tremor). If it tries to reach the nipple it shakes violently and fails, but if the nipple is put in its mouth it calms down and is able to suck. It may also have skeletal deformities, and twitching eye movement and be deaf, but these symptoms are more obscure and variable.

Causes

Causes of Beta-Mannosidosis
The cause of these difficulties is the lack of an enzyme which normally removes certain sugars from the cells. These sugars accumulate in the cells, and the cells of the nervous system show the effects first. Even with the best care the kid will die within a few weeks at the most.

Diagnosis

Diagnosis of Beta-Mannosidosis
We suggest that beta-mannosidosis should be one of the differential diagnoses when lysosomal enzyme disorders are suspected in cases of angiokeratoma corporis diffusum.

Treatment

Treatment of Beta-Mannosidosis
Consult with your doctor.

Prognosis

Prognosis of Beta-Mannosidosis
Consult with your doctor.

Prevention

Prevention of Beta-Mannosidosis
Consult with your doctor.