Canavan Disease have described by Doctor Myrtelle Canavan in year 1931. This disease is progressive and autosomal recessive inherited rare disorder that caused to leukodystrophy like Krabbe disease, Metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Alexander disease, Cerebrotendinous xanthomatosis and Refsum disease. This disease will destroy continuously the brain white matter also named myelin that is the sheath of neurons.
The defective gene aspartoacylase production gene named ASPA have localised in 17’th chromosome short arm. ASPA gene produces an enzyme called Aspartoacylase. The mutation of ASPA gene affects the metabolism of the N-acetylaspartic acid (NNA). If N-Acetyl Aspartate (NAA) metabolism may defective, N-Acetyl Aspartate (NAA) will accumulate in the brain. With it, this product has a devastating effect on the production of white matter also.
Elevation of N-Acetylaspartic acid level in the urine simple is diagnostic. Magnetic Resonance (MR) can shown the dysmyelination of white matter in the brain. With it Magnetic Resonance Spectrometer (MRS) can shown the N-acetylaspartic acid accumulation in the brain tissue also.
There is no cure for this disease and the prognosis is poor. Most of the patients will die before 10 years of age. With it, controlling the seizures, and following up the growth index may helpful for supportive treatment. The goal is to reduce the symptoms. Nutrition and hydration must administered well in these patients. If the patient have develop swallowing problems feeding tubes may helpful also. Physical therapy may administered, but it may have only a little help in treatment.