Article
Two patients with Canavan disease and structural modeling of a novel mutation.
Metabolic brain disease - 1 Feb 2017
Zaki Osama K, Krishnamoorthy Navaneethakrishnan, El Abd Heba S, Harche Soumaya A, Mattar Reem A, Al Disi Rana S, Nofal Mariam Y, El Bekay Rajaa, Ahmed Khalid A, George Priya Doss C, Zayed Hatem
Abstract excerpt
Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis of N-acetyl-L-aspartate (NAA) into aspartate and acetate. CD occurs frequently among Ashkenazi Jewish population, however it has been reported in many other ethnic groups with significantly lower...
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