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acetoacetic acid and Canavan Disease

acetoacetic acid has been researched along with Canavan Disease in 1 studies

acetoacetic acid : A 3-oxo monocarboxylic acid that is butyric acid bearing a 3-oxo substituent.

Canavan Disease: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Li, FY1
Cuddon, PA1
Song, J1
Wood, SL1
Patterson, JS1
Shelton, GD1
Duncan, ID1

Other Studies

1 other study available for acetoacetic acid and Canavan Disease

ArticleYear
Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b.
    Neurobiology of disease, 2006, Volume: 21, Issue:1

    Topics: 3-Hydroxybutyric Acid; Acetoacetates; Animals; Blotting, Western; Canavan Disease; Cytochromes b; Cy

2006