Canavan Disease: Genetic Disorder Analysis and Research Findings

This report provides a detailed analysis of Canavan disease, a degenerative autosomal recessive disorder impacting neurons in the brain. It explores the disease's introduction, encompassing symptoms like microcephaly and hypotonia, its genetic basis involving mutations in the ASPA gene, and the impact on affected individuals and society. The report delves into current research, including genetic studies identifying novel mutations and the role of NAA. It examines the significance of genetic counseling and diagnostic methods, such as gas chromatography mass spectroscopy and genetic testing. Various studies are reviewed, highlighting the genetic and clinical aspects of Canavan disease among different populations, with a focus on the identification of pathogenic variants and the correlation between enzyme activity, clinical presentation, and genotypes. The report also addresses the limitations of current research and the importance of further investigation into the disease.