Alpha Mannosidosis: Causes, Symptoms, Diagnosis, and Treatment Overview
Alpha Mannosidosis is a rare inherited metabolic disorder that affects the body’s ability to break down certain complex sugars (oligosaccharides) inside lysosomes. This condition falls under a group of diseases known as lysosomal storage disorders. It is caused by mutations in the MAN2B1 gene, which leads to deficiency or absence of the enzyme alpha-mannosidase. Without this enzyme, harmful substances accumulate in cells, gradually affecting multiple organs and systems.
What is Alpha Mannosidosis?
Alpha Mannosidosis is a progressive genetic condition that impacts both physical and neurological development. It is inherited in an autosomal recessive pattern, meaning a child must receive a defective gene from both parents to develop the disease. The severity of the condition can vary widely, ranging from mild to severe forms.
Causes and Genetic Background