Tay Sachs disease and phenylketonuria (PKU) are examples of genetic disorders caused by mutations in specific genes. Tay Sachs is a fatal neurological disorder caused by a deficiency in the enzyme hexosaminidase A, while PKU is a metabolic disorder resulting from a deficiency in the enzyme phenylalanine hydroxylase. Both conditions follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene to exhibit symptoms. Early diagnosis and intervention can help manage these conditions.
codominant alleles
what effect does Tay-sachs disease have on the body?
Tay-Sachs disease is a human genetic disorder.
what effect does Tay-sachs disease have on the body?
A person with tay sachs can live a healthy life but still battles the many limitations of Tay sachs disease. Depending on the type of tay sachs, Classic, Juvenile onset, and Late Onset depends how healthy a life a person with tay sachs disease.
About 16 cases of Tay-Sachs disease are diagnosed each year.
Tay-Sachs disease is abbreviated to TSD and is also known as GM2 gangliosidosis or Hexosaminidase A deficiency.
There is no evidence that shows that tay-sachs is a sex-linked trait.
There is no evidence that shows that tay-sachs is a sex-linked trait.
''Tay-Sachs'' was named after Warren Tay, an ophthalmologist who discovered the occurring red spot in the retina in 1881, and Bernard Sachs, who described the cellular changes related to this disease in 1887.
A mutation of the HEX A gene of chromosome 15 causes Tay-Sachs disease. As a result, the protein hexosaminidase A is not formed properly and GM2 ganglioside, the lipid normally broken down by hexosaminidase A, accumulates to toxic levels (especially in the brain).
Tay-sachs disease differs from an infectious disease because it is a hereditary disease, so it can only be passed from parents to their offspring.