Abstract
Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Adachi M, Schneck L, Cara J, Volk BW (1973) Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease). Hum Pathol 4:331–347
Divry P, Vianey-Liaud C, Gay C, Macabeo V, Rapin F, Echenne B (1988) N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. J Inherited Metab Dis 11:307–308
Echenne B, Divry P, Vianey-Liaud C (1988) Spongy degeneration of the neuraxis (Canavan-Van Bogaert disease) and N-acetylaspartic aciduria. Neuropediatrics 20:79–81
Hagenfeldt L, Bollgren I, Venizelos N (1987) N-acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy. J Inherited Metab Dis 10:135–141
Jacobsen KB (1957) Studies on the role of N-acetylaspartic acid in mammalian brain. J Gen Physiol 43:323–333
Kvittingen EA, Guldal G, Børsting S, Skalpe IO, Stokke O, Jellum E (1986) N-acetylaspartic aciduria in a child with a progressive cerebral atrophy. Clin Chim Acta 158:217–227
Lowry OH, Rosenbrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the folin phenol reagent. J Biol Chem 193:265–275
Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29:463–471
Matalon R, Kaul R, Casanova J, Michals K, Johnson A, Rapin I, Gashkoff P, Deanching M (1989) Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherited Metab Dis 12:329–331
McAdams HP, Geyer CA, Done SL, Deigh D, Mitchell M, Ghaed VN (1989) CT and MR imaging of Canavan disease. Am J Neuroradiol 11:397–399
Nadler JV, Cooper JR (1972) N-acetyl-l-aspartic acid content of human neural tumours and bovine peripheral nervous tissues. J Neurochem 19:313–319
Ozand PT, Gascon GG, Dhalla M (1990) Aspartoacylase deficiency and Canavan disease in Saudi Arabia. Am J Med Genet 35:266–268
Shigematsu H, Okamura N, Shimeno H, Kishimoto Y, Kan L, Fenselau C (1983) Purification and characterization of the heatstable factors essential for conversion of lignoceric acid to cerebronic acid and glutamic acid: identification of N-acetyl-l-aspartic acid. J Neurochem 40:814–820
Ungar M, Goodman RM (1983) Spongy degeneration of the brain in Israel: a retrospective study. Clin Genet 23:23–29
Yalaz K, Topcu M, Topaloglu H, Gurcay Ö, Özcan OE, Önol B, Renda Y (1990) N-acetylaspartic aciduria in Canavan disease: another proof in two infants. Neuropediatrics 21:140–142
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bartalini, G., Margollicci, M., Balestri, P. et al. Biochemical diagnosis of Canavan disease. Child's Nerv Syst 8, 468–470 (1992). https://doi.org/10.1007/BF00274411
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00274411