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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
Cri du chat
Duchenne Muscular Dystrophy
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Michael & Caroline
Canavan-Van Bogaert-Bertrand Disease
Nature of the Genetic Difficulty
Is there a point mutation, or any insertion/deletion entirely inside one gene? Is there a (gene or genes) missing? A whole chromosone extra, missing, or both? Or might the gene be extended in length?
Canavan disease can be tguki
Normally, the ASPA gene is responsible for making the enzyme aspartoacyclase, which breaks down the compound N-acetyl-L-aspartic acid (NAA) into aspartic acid and acetic acid, which the brain can then use. The breakdown of NAA appears to be critical for maintaining the brain's white matter, which consists of myelinated nerve fibers.
Canavan disease is a leukodystrophy - one of several devastating neurological disorders in which the brain deteriorates due to a defective inherited gene. Symptoms of the disease appear in infancy and can include mental retardation, loss of motor skills, difficulties in feeding, abnormal muscle tone (either weakness or stiffness), poor control of head motion, and an abnormally large head. Rarer symptoms include paralysis, blindness, and seizures. The symptoms of Canavan disease progress rapidly and produce devastating results.
Death from Canavan Disease typically occurs before age 4 because there is no cure and no standard course of treatment. Some individuals have lived into their early twenties because of experimental therapies, but success is limitted.
The most successful experimental therapy in use today involves treatment with lithium citrate. The lithium citrate has been proven to significantly reduce levels of N-acetyl aspartate, the chemical responsible for inhibiting myelin sheaths on neurons.
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