Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria)
CD is a rare, autosomal recessive neurometabolic disorder with often devastating clinical consequences. It typically presents in early infancy. Clinical symptoms and MRI-based findings are chronic neurological deterioration with irritability and severe global developmental delay, loss of early milestones, macrocephaly, and seizures together with white matter abnormalities in the brain (“leukodystrophy”). CD is biochemically characterized by a deficiency of aspartoacylase along with the accumulation of NAA in the brain and in body fluids, particularly in urine. In the majority of CD patients, the disease leads to early death. As there is no cure for this condition, management of affected children and their families is symptom orientated and supportive and includes a multidisciplinary medical team.
KeywordsAminoacylase Neurometabolic disease Organic aciduria Enzyme activity assays Magnetic resonance imaging (MRI)
- Kaul R, Gao GP, Balamurugan K, Matalon R (1993) Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet 5:118–123Google Scholar
- Lienhard U, Sass JO (2011) Canavan disease: a neurometabolic disease caused by aspartoacylase deficiency. J Pediatr Sci 3(1):e7Google Scholar
- Mendes MI, Smith DE, Pop A, Lennertz P, Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS (2017) Clinically distinct phenotypes of Canavan disease correlate with residual aspartoacylase enzyme activity. Hum Mutat 38:524–531CrossRefGoogle Scholar
- van Bogaert L, Bertrand I (1949) Sur une idiotie familiale avec dégénérescenece spongieuse de neurone (note preliminaire). Acta Neurol Belg 49:572–587Google Scholar