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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.

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Metadaten
Document Type:Part of a Book
Language:English
Parent Title (English):Oohashi, Tsukahara et al. (Eds.): Human Pathobiochemistry: From Clinical Studies to Molecular Mechanisms
Volume:20
First Page:15
Last Page:21
ISBN:978-981-13-2976-0
DOI:https://doi.org/10.1007/978-981-13-2977-7_2
Publisher:Springer
Place of publication:Singapore
Date of first publication:2019/03/14
Tag:Aminoacylase; Enzyme activity assays; Magnetic resonance imaging (MRI); Neurometabolic disease; Organic aciduria
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2019/03/28