Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), knock knees, and deterioration of the bones and joints.
Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose.
Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Allan Lund is in Copenhagen, Denmark. Lund is rated as an Elite expert by MediFind in the treatment of Alpha Mannosidosis. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Alpha Mannosidosis, Primary Carnitine Deficiency, Inborn Amino Acid Metabolism Disorder, and Argininosuccinic Aciduria.
Line Borgwardt is in Copenhagen, Denmark. Borgwardt is rated as an Elite expert by MediFind in the treatment of Alpha Mannosidosis. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Alpha Mannosidosis, Acute Adrenal Crisis, Autoimmune Polyglandular Syndrome Type 2, and Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
Dag Malm is in Norway. Malm is rated as a Distinguished expert by MediFind in the treatment of Alpha Mannosidosis. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Alpha Mannosidosis and Hearing Loss.
Published Date: May 01, 2014Published By: National Institutes of Health