Characterized by a lack of the enzyme hexosaminidase A (Hex A), which is essential for the body to properly use lipids. The lipids tend to accumulate in the cells, especially brain cells, resulting in their destruction and eventually death is a genetic disease within the group known as inborn errors of metabolism is a single-gene recessive hereditary defect.
An inherited condition affecting the metabolism, characterised by progressive paralysis of the legs, blindness and learning disabilities [Described 1881. After Warren Tay (1843-1927), British ophthalmologist; Bernard Sachs (1858-1944), US neurologist.]
A genetic disease due to a mutation in the gene for the enzyme hexo-amidase A that is involved in the normal degradation of brain gangliosides. When these accumulate, the child loses mental function and dies.
Tay-Sachs disease is a degenerative disease of the nervous system. It is due to a deficiency of the enzyme B- hexosaminidase. The absence of this enzyme causes a lack of lipid metabolism that results in an accumulation on the brain. It is inherited as an autosomal recessive trait. Tay-Sachs disease is found predominately in Ashkenazi Jewish people of Eastern and Central European ancestry. Prevalence for Tay-Sachs disease in Ashkenazi Jewish infants is 1 in 2,500. However, for non- Jewish babies the disorder is very rare and occurs in 1 in about 360,000.
A progressive disease in infants that involves deterioration of the brain and results in death at an early age.
A progressive neurological genetic disorder characterized by the accumulation of a fatty substance in the nerve cells of the brain. The most common form of the disease affects infants, who appear healthy at birth and seem to develop normally for the first few months of life. However, they lack the enzyme hexosaminidase A (hex A), which is necessary for the ongoing breakdown of a substance called ganglioside GM2 and other fatty substances in the brain and nerve cells. As their nerve cells gradually become clogged with fatty material, babies with Tay-Sachs disease gradually become unable to smile, crawl, or turn over, and they * lose the ability to grasp or reach with their hands. Eventually they become deaf, blind, and unable to swallow. Their muscles weaken and become paralyzed. There is no cure for Tay-Sachs disease. Treatment is limited to making the child as comfortable as possible. Children with Tay-Sachs disease usually die by age 5. Tay-Sachs disease occurs most frequently among descendents of central and eastern European (Ashkenazi) Jews.
An inherited recessive condition in which there is abnormal accumulation of lipids in the brain. The result is blindness, mental retardation and death in early childhood. The incidence can be reduced by genetic counselling and selective abortion in those communities in which the disease is known to occur.
The most severe (and most common) of the lipid storage diseases. Tay-Sachs disease is characterized by neurological deterioration in the first year of life. It is caused by a genetic abnormality on chromosome 15, which results in the deficient manufacture of lysosomal beta-hexosamindase A. As a result of this metabolic error, sphingolipids accumulate in the neural tissues of affected offspring. The illness is especially prominent in families of Eastern European (Ashkenazi) Jews. In this ethnic group it is carried by approximately 1 in 25 individuals. Carriers of the trait can be accurately detected by assay of hexosaminidase A.
A recessive genetic disorder characterized by the lack of an important chemical in the brain and resulting in brain damage.
A hereditary disorder that manifests prominently among the Ashkenazi Jewish community in the United States is worthy of attention. This particular condition primarily affects infants and hampers their ability to metabolize a specific category of fat. As a consequence, the accumulation of this fat within nerve and brain cells occurs, leading to severe cognitive and physical impairments. Tragically, individuals afflicted with this disease often succumb to its devastating effects before reaching the age of four.
A grave hereditary metabolic condition that leads to untimely fatality. The root cause is the scarcity of the enzyme hexosaminidase A, causing the accumulation of a harmful substance within the brain. Symptoms typically emerge after six months of age and encompass blindness, paralysis, and seizures, ultimately resulting in demise by the ages of three to five years.
Diagnosis is established through an examination of the enzymes found in white blood cells. Genetic counseling for high-risk populations, such as Ashkenazi Jews, has significantly curtailed the occurrence of Tay-Sachs disease.
A hereditary condition primarily found in Jewish families that affects infants within their first year. Although the child seems healthy at birth, they later show signs of mental decline, eventually resulting in severe cognitive impairment, total paralysis, and deteriorating vision, leading to blindness. A distinctive cherry-red spot on the retina is indicative of this disease. Most children with this condition sadly pass away by the age of two. The exact cause remains unknown, and there’s no proven treatment. Also referred to as amaurotic family idiocy or Warren-Tay-Sachs disease.