Mannosidosis
Mannosidosis Causes
Mannosidosis is caused by deficiency of the enzyme alpha mannosidosase resulting to accumulation of chemicals in the body leading to physical and mental weakening.
Mannosidosis Definition
Mannosidosis (alpha-mannosidosis) is a rare inherited metabolic disorder characterized by a deficiency of the alpha mannosidosase. This occurrence results in the accumulation of certain chemicals in the body leading later on to mental and physical deterioration. The enzyme alpha-mannosidosase aids in the breakdown of complex sugars derived from glycoprotein in the organelles that contain digestive enzymes (lysosomes).
Mannosidosis Diagnosis
Diagnosis of Mannosidosis is achieved by measuring enzyme activity in white blood cells and in due course measuring chemical presence in the urine. Unfortunately, this action is often made late resulting to under diagnosis of the condition.
Mannosidosis Symptoms and Signs
Mannosidosis exhibits complex clinical symptoms like the following: * Unusual facial features including: 1. Coarse face 2. Flattened nose bridge 3. Small nose 4. Wide mouth 5. Enlarged tongue 6. Large head 7. Widely spaced teeth * Mental symptoms 1. Mental retardation 2. Mixture of strong and weak mental performances 3. Inability to understand abstracts 4. Restricted vocabulary 5. Delayed ability of speech * Bone and muscular symptoms 1. Weak muscle tone (Hypotonia) 2. Big feet 3. Big hands 4. Bowed femoral bone 5. Tall stature 6. Rigid and deformed spine 7. Back pain 8. Joint destruction * Associated symptoms 1. Immune-deficiency signified by recurrent infections 2. Hearing problems