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.

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?
Paul J. Orchard
Distinguished in Alpha Mannosidosis
Pediatric Hematology Oncology | Pediatrics | Hematology
Distinguished in Alpha Mannosidosis
Pediatric Hematology Oncology | Pediatrics | Hematology

Center For Pediatric Blood And Marrow Transplantation - Pediatric Specialty Care Journey Clinic

2450 Riverside Ave, 
Minneapolis, MN 
Languages Spoken:
English

Paul Orchard is a Pediatric Hematologist Oncology specialist and a Pediatrics provider in Minneapolis, MN. Dr. Orchard and is rated as a Distinguished provider by MediFind in the treatment of Alpha Mannosidosis. His top areas of expertise are Adrenoleukodystrophy (ALD), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), Bone Marrow Transplant, and Osteotomy.

Elite in Alpha Mannosidosis
Elite in Alpha Mannosidosis
Lyon, FR 

Nathalie Guffon practices in Lyon, France. Guffon and is rated as an Elite expert by MediFind in the treatment of Alpha Mannosidosis. Her top areas of expertise are Alpha Mannosidosis, Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidoses (MPS), and Niemann-Pick Disease.

 
 
 
 
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Elite in Alpha Mannosidosis
Elite in Alpha Mannosidosis
Madrid, MD, ES 

Mercedes Campos-Gil practices in Madrid, Spain. Campos-Gil and is rated as an Elite expert by MediFind in the treatment of Alpha Mannosidosis. Her top areas of expertise are Alpha Mannosidosis, Congenital Hyperinsulinism, Obesity in Children, Obesity, and Bone Marrow Transplant.

What are the latest Alpha Mannosidosis Clinical Trials?
Longitudinal Study of Neurodegenerative Disorders

Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.

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A Real-world Analysis of Pharmacodynamic Response to Velmanase Alfa (Lamzede®) Treatment in Patients With Alpha-Mannosidosis Less Than 3 Years of Age

Summary: The goal of this observational study is to learn the effects of the drug velmanase alfa (Lamzede®) in the bodies of children under the age of 3 with Alpha-Mannosidosis. The main questions it aims to answer are: * study the effect of velmanase alfa on a marker of the disease called GlcNAc(Man)2 after one year of therapy * explore how the child's body reacts to velmanase alfa during the therapy The ...

Who are the sources who wrote this article ?

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