Aspartoacylase Deficiency and Getting Disability BenefitsAspartoacylase deficiency is a rare, inherited (genetic) neurological disease that is characterized by the degeneration of the white matter of the brain into spongy tissue that has many microscopic fluid-filled spaces. Aspartoacylase deficiency involves the breakdown and metabolism (use) of aspartic acid. Aspartoacylase deficiency is one of a group of genetic neurological diseases that are known as the leukodystrophies. These diseases lead to imperfect growth or development of the myelin sheath. The myelin sheath is the fatty covering that works like an insulator around nerve fibers in the brain. Myelin gives its color to the white matter of the brain. Myelin is a complex substance that is made up of at least 10 chemicals. One and only one of these chemicals is affected by each one of the leukodystrophies. In the case of aspartoacylase deficiency, it stops an enzyme that is referred to as aspartoacylase from being produced. Aspartoacylase deficiency is referred to in other ways. It is also known as spongy degeneration of the brain, canavans leukodystrophy, ASPA deficiency and canavan disease. Aspartoacylase deficiency is brought about by a defective (faulty) gene that results in the absence of the enzyme aspartoacylase. This is the enzyme that has the responsibility of breaking down a material that is referred to as N-acetylaspartic acid in the brain. N-acetylaspartic acid begins to builds up in the brain when the enzyme aspartoacylase is not there. This, in turn, leads to the break down (deterioration) of the white matter of the brain. As stated above, aspartoacylase deficiency is an inherited (genetic) disease. What this means is that it is passed down from parents to their children. The pattern of inheritance for aspartoacylase deficiency is what is referred to as an autosomal recessive pattern. This means that each parent has to have this defective gene in order for a person to have the possibility of acquiring this disease.
Risks that increase the chances of getting aspartoacylase deficiencyThere are some risk factors that may increase the risk of getting aspartoacylase deficiency. Some of these are:
- ASPA gene mutations
- ? Being of Ashkenazi Jewish ethnicity
- ? A family history of this disease.
Symptoms of aspartoacylase deficiencyThere are several different signs and symptoms that your loved one may experience, which may be an indication of Aspartoacylase deficiency. Some of these include:
- ? Blindness or poor visual tracking ability
- ? An abnormal posture that involves flexed arms and straight legs
- ? Severe mental retardation
- ? An abnormally large, poorly controlled head (macrocephaly)
- ? Difficulty being able to eat
- ? The backflow of food material into the nose (nasal regurgitation)
- ? Being prone to seizures
- ? The loss of previously acquired motor skills
- ? Paralysis
- ? Loss of dexterity
- ? Poor muscle tone, especially true of the neck muscles
- ? Abnormal muscle tone that may either involve stiffness or floppiness
- ? Reflux that also involves vomiting
- ? Difficulty with swallowing
- ? Irritability
- ? An impairment in speech.