Learn About Alpha Mannosidosis

What is the definition of Alpha Mannosidosis?

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.

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What are the causes of Alpha Mannosidosis?

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.

How prevalent is Alpha Mannosidosis?

Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.

Is Alpha Mannosidosis an inherited disorder?

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.

Who are the top Alpha Mannosidosis Local Doctors?
Elite
Highly rated in
22
conditions

Centre For Inherited Metabolic Diseases, Rigshospitalet, Copenhagen University Hospital

Copenhagen, DK 

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.

Elite
Highly rated in
2
conditions

Rigshospitalet

Department Of Paediatrics And Adolescent Medicine 
Copenhagen, DK 

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.

 
 
 
 
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Distinguished
Highly rated in
1
conditions

University Hospital Of North Norway

NO 9038

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.

What are the latest Alpha Mannosidosis Clinical Trials?
A Prospective Outcomes Study of Pediatric and Adult Patients With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation With a Reduced-Intensity Conditioning Regimen (PRO-RIC)
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PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders
Who are the sources who wrote this article ?

Published Date: May 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Alpha Mannosidosis?
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.