The state of treatment approach and diagnostics in Canavan disease with focus on the determination of N-acetylasparic acid

Abstract

This article is aimed to current state of diagnostic and treatment of Canavan disease. Canavan disease is an inherited metabolic disease caused by the absence of enzyme aspartoacylase. Disruption of N-acetylaspartic acid metabolism results in its accumulation in the brain and subsequently in body fluids. It is characterized by spongy degeneration of the white matter in the brain resulting in severe psychomotor handicaps. An early diagnostic of Canavan disease is desirable to start a treatment before irreversible damage to slowing the progress and improving the quality of patient´s life. The present therapy consists of supportive basis and is focused on a symptomatic alleviation via drug treatment or dietary supplementation, and a gene therapy also seems to be a promising treatment for the future. Diagnostic methods are based on characteristic pathological changes of white matter examination, enzymatic assay for ASPA activity, molecular diagnostic approaches on gene level, and methods based on the determination of N-acetylaspartic acid as a marker of Canavan disease in various biological samples. Gas chromatography, liquid chromatography, and capillary electrophoresis are the most used analytical methods for the NAA determination mainly in urine and CSF. Hyphenated chromatographic and tandem mass spectrometric methods utilized recently provide more sensitive approach, advantageous for matrices with lower NAA levels.