Inheritance pattern of phenylketonuria and tay-sachs disease?

Phenylketonuria (PKU)

PKU is an autosomal recessive genetic disorder, which means that both copies of the gene responsible for producing the enzyme phenylalanine hydroxylase (PAH) must be mutated in order for the disorder to manifest.

- Individuals who have one mutated copy of the PAH gene and one normal copy are called carriers. Carriers do not have PKU themselves, but they can pass the mutated gene on to their children.

- Individuals who have two mutated copies of the PAH gene have PKU. They lack the ability to convert phenylalanine into tyrosine, which leads to a buildup of phenylalanine in the blood and urine. This can cause a number of health problems, including intellectual disability, seizures, and behavioral problems.

Tay-Sachs Disease

Tay-Sachs disease is also an autosomal recessive genetic disorder. It is caused by a mutation in the HEXA gene, which codes for the enzyme hexosaminidase A. This enzyme is responsible for breaking down a fatty substance called GM2 ganglioside. When hexosaminidase A is not functioning properly, GM2 ganglioside accumulates in the brain, causing nerve damage and eventually death.

- Carriers of Tay-Sachs disease have one mutated copy of the HEXA gene and one normal copy. They do not have the disease themselves, but they can pass the mutated gene on to their children.

- Individuals who have two mutated copies of the HEXA gene have Tay-Sachs disease. They typically develop symptoms in infancy or early childhood, and the disease progresses rapidly. Most children with Tay-Sachs disease die before the age of 5.