Alpha-mannosidosis

Below you will find more information about Alpha-mannosidosis from Medigest. If you believe that you are suffering from any of the symptoms of Alpha-mannosidosis it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Alpha-mannosidosis and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Alpha-mannosidosis comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

Prevalence

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

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.

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.

Discuss Alpha-mannosidosis in our forums

Discuss Alpha-mannosidosis with other members of Medigest in our forums.