Spongy Degenration Of The Nervous System

Central nervous system, spongy degeneration of the : also called canavan disease, this is a severe progressive fatal inherited (genetic) disorder of the central nervous system (cns).
The signs of canavan disease usually appear when the children are between 3 and 6 months of age. They include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems. As the disease progresses, convulsions (seizures), shrinkage of the nerve to the eye (optic atrophy) and often blondness, heartburn (gastrointestinal reflux) and deterioration of swallowing develop.
Most children with canavan disease die in the first decade of life. There is currently no cure or effective treatment for canavan disease.
Canavan disease is caused by a deficiency of the enzyme aspartoacylase. This leads to increased excretion of a substance (its substrate) called n-acetylaspartic acid (naa) in the urine. The diagnosis of canavan disease is made by finding an increased level of urinary naa (by organic acid analysis).