N-Acetylaspartic Aciduria in Canavan Disease: Another Proof in Two Infants

Abstract

Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. The aspartoacylase assay is a new tool for determining both the prenatal and antenatal diagnosis of Canavan disease. This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan.

Simultaneous Determination of N-Acetylaspartic Acid, N-Acetylglutamic Acid, and N-Acetylaspartylglutamic Acid in Whole Brain of 3-Mercaptopropionic Acid-Treated Rats Using Liquid Chromatography-Atmospheric Pressure Chemical Ionization Mass Spectrometry

“…NAA may be a residual of NAAG hydrolysis by peptidase like that in retinal cells (14). NAA concentrations can be reduced by lesions, caused by multiple sclerosis, brain tumors, Huntington's disease, and Canavan's disease (15)(16)(17). These findings reflect the loss of viable neuronal cell bodies and processes where NAA is localized (18).…”

Identification ofN‐acetyl‐α‐aminoadipic acid in the urine of a patient with α‐aminoadipic and α‐ketoadipic aciduria

“…On the other hand, some acetylated amino acid derivatives exist in the nervous system. Increased amounts of urinary N-acetylasparatic acid in Canavan disease, with psychomotor deterioration, macrocephaly, hypotonia and/or spasticity, has been reported by Yalaz et al (1990). The mechanisms are unknown and it has been proposed that dysmyelogenesis may result from an abnormal functioning of Nacetylasparatic acid as a transporter of acetyl groups for lipogenesis.…”