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Alpha-mannosidosis



Alpha-mannosidosis Definition


Alpha-mannosidosis is an “autosomal recessive metabolic disorder” that leads to physical and mental deterioration. When the a-mannosidase enzyme becomes defective, it causes impaired cell function and sugar buildup. Since this enzyme normally helps in breaking down complex sugars, absence of this functional enzyme may lead to death on children caused by deterioration of the central nervous system.


Alpha-mannosidosis Diagnosis


Diagnosis is made by measuring the enzyme activity in white blood cells and measuring substances in urine. Although diagnosis is usually made late, symptoms are often mild. However, biochemical diagnosis is difficult, so most cases are under diagnosed.


Alpha-mannosidosis Prevalence


Alpha-mannosidosis occurs in 1 in 500,000 worldwide. This disease is found in all ethnic groups in America, Asia, Africa and Europe.


Alpha-mannosidosis Symptoms and Signs


Patients with alpha-mannosidosis experience cerebral symptoms, including brain dysfunction and gait. For mentally retarded patients, learning problems may also occur. However, these problems can be reduced by enrolling children in special schools taught by professional teachers. Some patients may also experience hearing loss and problems with transferring sound through the middle ear, which are both caused by nerve dysfunction. Because of this, patients may also experience a delay in ability of speech, including restricted vocabulary, incomplete sentences and understanding of abstracts. Majority of patients with alpha-mannosidosis has recurrent infections. These infections may affect the middle ear, gastrointestinal tract and the upper or lower respiratory tract. Skeletal malformation can also be seen in the spine of the chest, which may result in back pain and deformed spine. This condition also causes damages to the joints with symptoms resembling rheumatoid arthritis. Patients may also develop muscle weakness and pain, which could lead to total immobilization.


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