Beta-mannosidosis

Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges from infancy to adulthood. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be prone to depression or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis are often extremely introverted.

People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).

Other names

Beta-D-mannosidosis; Beta-mannosidase deficiency; Lysosomal beta A mannosidosis; Lysosomal beta-mannosidase deficiency

Inheritance pattern

Autosomal recessive

Related genes

MANBA

Source: MedlinePlus Genetics, U.S. National Library of Medicine.