Canavan Disease Genetics, Symptoms and Treatment

Canavan Disease Genetics, Symptoms and Treatment

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.

Canavan Disease genetics:

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.

Canavan Disease symptoms:

  • Poor head and neck control may seen in this patients.
  • This patients cannot sit without assistance also.
  • Convulsions and seizures have commonly reported also.
  • Hypotonia in the muscles and weakness is common.
  • Visual loss due to optic atrophy may seen also.
  • Macrocephaly (Head is bigger than normal limit).
  • Mental retardation may always seen in these patients.

Canavan Disease diagnosis:

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.

Canavan Disease treatment:

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.


to read about Krabbe Disease click this link

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