Definition:
Lysosomal alpha-D mannosidase deficiency is an autosomal recessive metabolic disorder that often causes mental and physical deterioration.
Diagnosis:
Detection of the disease includes examination of medical history, physical examination including otoscopy and neurologic status, otolaryngologist examination, skeletal assessment and CT scan of the brain (Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C (2004) Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr 144:569-73).
Treatment:
There is no specific or exact treatment for this kind of disease. However, treatment to its symptoms includes administration of antibiotics especially for patients with frequent respiratory infections. Physical therapy and to some extent bone marrow transplantation are also administered.
Symptoms and Signs:
Densed or thickened skull, coarse face, anomaly along the pelvis, chronic inflammatory lung disease and hypertelorism are the common signs of the disease.
Causes:
It is commonly caused by the deficiency of an enzyme called alpha-D-mannosidase, which is important to the process of breaking down the complex molecule.
:
lysosomalalphadmannosidasedeficiency
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