Biochemical diagnosis of Canavan disease
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G. Bartalini; M. Margollicci; P. Balestri; M. A. Farnetani; M. Cioni; A. Fois
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Article
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1992
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Springer
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English
โ 261 KB
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