Phenylketonuria (PKU)

lets learn about this rare disease today


it is a birth defect that causes an amino acid called phenlalanine to build up in your body

Symptoms of PKU (Phenylketonuria)

Children with this disorder

Here's the cause

cause of the disorder

it is an genetic mutation that causes PKU, its practically an defective gene that you get from an parent who carries the defective gene and they can't eat things high in protein cause the person with it can have serious health problems.

is PKU inherited?

PKU can be inherited in families caused by an autosomal recessive pattern and one parent can be the carrier of the disorder but also mixed with normal genes the carrier can look like a normal person.

it is not sex-linked if both parents have the gene then the unborn child can be born with the disorder.

it is a very autosomal recessive pattern that can be passed from parent to child.

How PKU can be treated

there is an dietary restriction to having this disorder and you can't eat or drink things high in protein like milk,eggs,certain meats,etc.

enzyme replacement therapy is also an priority.

How PKU is diagnosed

There are test on babies right away when they are born to see if the have Phenylketonuria but if you do it right after they are born then you have an less chance when they grow they will be mentally retarded.

there is no gene counseling for this disorder.

What Type of people can get PKU

Its most common in 1 in 10000 in Caucasians more common in people in Celtic decent

(Scottish, Irish, and Welsh)

My conclusion

i found out that the parents actually carry the gene then it can pass on into the child and this disease has no cure and you have it for life and you cant eat any protein at all and you have to be tested for it when you are a little tiny baby or if you have this disease you will have mental retardation and you have that for life.