Tay Sachs syndrome essay
Tay-Sachs disease · One-month-old boy of Central European descent is brought to the pediatrician because of progressive weakness, decreased visual attention, and an exaggerated response to startle. He was born weeks into pregnancy without perinatal complications and an unremarkable prenatal history. Disease overview. Tay-Sachs disease is a rare, neurodegenerative disorder in which a deficiency of an enzyme hexosaminidase A results in excessive accumulation of certain fats, lipids, known as gangliosides, in the brain and nerve cells. This abnormal accumulation of gangliosides leads to progressive central nervous system dysfunction. Tay-Sachs is a stealth disease. Newborns develop on a completely normal trajectory for the first few months of life, doing the work of a baby: neurons firing, neck and neck muscles. Quelz. Tay-Sach disease is a rare genetic metabolic disorder caused by a deficiency of the enzyme hexosaminidase A, resulting in an inability to process GM that accumulates in the brain and other tissues. It was first described by Waren Tay and Bernard Sachs, who distinguished it from other neurological disorders. Similarities between Tay-Sachs disease and Niemann-Pick disease. Both Tay-Sachs disease and Niemann-Pick disease are lysosomal storage diseases, meaning there is an abnormal metabolic product due to a deficiency of one of the many lysosomal enzymes that would normally break down lipids. 2. Both Tay-Sachs disease, INTRODUCTION. This monograph discusses the implications of genetic testing results for the HEXA gene, which encodes the alpha subunit of beta-hexosaminidase A, the enzyme deficient in Tay-Sachs disease (TSD). It does not discuss indications for testing and is not intended to replace clinical judgment in decisions to test or care for the patient,