[4] Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness – hypotonia – that may eventually translate into spasticity), poor head control, and megalocephaly (abnormally enlarged head).

[citation needed][8] The diagnosis of neonatal/infantile Canavan disease relies on the demonstration of a very high concentration of N-acetylaspartic acid (NAA) in the urine.

In mild/juvenile Canavan disease, NAA may only be slightly elevated; thus, the diagnosis relies on molecular genetic testing of ASPA, the gene encoding the enzyme aspartoacylase.

The lithium citrate was proven in a rat genetic model of Canavan disease to decrease levels of N-acetyl aspartate significantly.

[citation needed] The investigation revealed both decreased N-acetylaspartate levels in regions of the brain tested and magnetic resonance spectroscopic values that are more characteristic of normal development and myelination.

[12] In human trials, the results of which were published in 2012, this method appeared to improve the patient's life without long-term adverse effects during a five-year follow-up.

[13] Canavan disease typically results in death or development of life-threatening conditions by the age of ten, though life expectancy is variable,[14] and is highly dependent on specific circumstances.

[citation needed] A team of researchers headed by Paola Leone at the University of Medicine and Dentistry of New Jersey, has tried a procedure involving the insertion of six catheters into the brain that deliver a solution containing 600 to 900 billion engineered virus particles.

[12] Children treated with this procedure to date have shown marked improvements, including the growth of myelin, with decreased levels of the N-acetylaspartate toxin.

[23] A team of researchers of University of Massachusetts Medical School is working on developing rAAV-based and optimized gene replacement therapy, that would travel across the blood-brain-barrier.