ENFERMEDAD DE TAY-SACHS PDF

Tay-Sachs disease is a rare disorder passed from parents to child. It's caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child's brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control.

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NCBI Bookshelf. Genes and Disease [Internet]. Tay-Sachs disease, a heritable metabolic disorder commonly associated with Ashkenazi Jews, has also been found in the French Canadians of Southeastern Quebec, the Cajuns of Southwest Louisiana, and other populations throughout the world.

The severity of expression and the age at onset of Tay-Sachs varies from infantile and juvenile forms that exhibit paralysis, dementia, blindness and early death to a chronic adult form that exhibits neuron dysfunction and psychosis.

Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene HEXA on chromosome This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell.

A mouse model has been developed for Tay-Sachs, although its usefulness is limited since Tay-Sachs mice possess a minor alternative pathway for breaking down GM2 ganglioside. Treatment of the late onset form of Tay-Sachs with a ganglioside synthesis inhibitor shows promise. The effectiveness this and other treatments on individuals with the infantile the most common form of the disease is extremely limited since the extent of neurological damage prior to birth is unknown.

The difficulty in reversing such damage will make it hard to develop an effective treatment for the infantile form of the disease. It is hoped, however, that the latter onset forms of Tay-Sachs may prove responsive to treatment, and such treatment combined with the DNA and enzymatic screening programs currently in use will lead to the eventual control of this disease. Turn recording back on. National Center for Biotechnology Information , U. Search term. Tay-Sachs disease.

Related diseases See other Diseases of the Nervous System. Copyright Notice. Gene sequence. Genome view see gene locations Entrez Gene collection of gene-related information BLink related sequences in different organisms. The literature. Research articles online full text Books online books section OMIM catalog of human genes and disorders GeneReviews a medical genetics resource. Related information.

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Tay–Sachs disease

Tunja, Colombia. Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase lysosomal enzymes. Objective: To perform a review of the state of the art on TSD describing its definition, epidemiology, etiology, physiopathology, clinical manifestations and news in diagnosis and treatment. Results: 1 results were retrieved in total, of which 53 articles were selected. Research on molecular pathogenesis and the development of possible treatments has been limited, consequently there is no treatment established to date. Conclusion: TSD is an autosomal recessive neurodegenerative disorder.

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Tay-Sachs disease

It is edited by Dr. The Journal accepts works on basic as well applied research on any field of neurology. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published. Read more.

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