- ... development. Learn more about the gene associated with Canavan disease ASPA Inheritance This condition is inherited in an ... Testing Registry: Mild Canavan disease Genetic Testing Registry: Spongy degeneration of central nervous system Genetic and Rare Diseases Information Center Canavan disease ...
- Canavan disease is a condition that affects how the body breaks down and uses aspartic acid . ... Canavan disease is passed down (inherited) through families. It is more common among the Ashkenazi Jewish population than ...
- Leukodystrophies are rare diseases that affect the cells of the brain and are often genetic. Find more information on these progressive diseases. ... What ...
- ... cells (neurons). Health Conditions Related to Genetic Changes Canavan disease More than 80 mutations in the ASPA gene are known to cause Canavan disease, which is a rare inherited disorder that affects ...
- ... published></health-condition-summary><health-condition-summary ><name >Canavan disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... ACY1D, see Aminoacylase 1 deficiency ACY2 deficiency, see Canavan disease Acyl-CoA dehydrogenase 9 deficiency, see ACAD9 deficiency ... imperfecta Aminoacylase 1 deficiency Aminoacylase 2 deficiency, see Canavan disease Amish brittle hair syndrome, see Trichothiodystrophy Amish infantile ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/canavan-disease</url><title >Canavan disease</title><other_names ><other_name >ACY2 deficiency</other_ ...
- ... nigricans Canale-Smith syndrome, see Autoimmune lymphoproliferative syndrome Canavan disease Canavan's disease, see Canavan disease Cancer family syndrome, ...
- ... Leukodystrophy, Metachromatic</descriptor></mesh-heading><mesh-heading ><descriptor >Canavan Disease</descriptor></mesh-heading><mesh-heading ><descriptor >Leukodystrophy, Globoid ...
- ... Scott et al [2010] , Lazarin et al [2013] Canavan disease AR ASPA c.854A>C p.Glu285Ala 83% ... Balamurugan K, Petrosky A, Michals K, Matalon R. Canavan disease: mutations among Jewish and non-Jewish patients. Am ...
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