who knows a lot about PHENYLKETONURIA or PKU?

Question

i need to know:
1how a person inherits it. is it a dominant or recessive gene?
2what are the possible genotypes of the parents? if the disease is a chromosomal abnormality, describe the abnormality.
3how prevalent the disease in the population, include stats.
4what are the chances of a person with this disease passing the disease to thier offspring?
5how is the disease diagnosed?
6what are the physical symptoms of the disease?
7what is the life expectancy of someone with this disease?
8how can the disease be treated?

Answer 1

Phenylketonuria (PKU) is inherited autosomal recessive trait. It is a deficiency of the enzyme Phenylalanine hyrdroxylase that catalyzes the coversion of Phenylalanine to tyrosine. The build up of phenylpyruvate or other byproducts of the build up will build up to toxic levels and cause permanent brain damage.
This is why babies must be tested for PKU when they are born and put on a special diet that restricts Phenylalanine so to avoid this.

When I test baby urine or the urine of kids, if I smell a musty odor, I will alert the pathologist to this, because people with Phenylketonuria their urine will take that odor on.

A genetic counselor can answer the genetic questions.
Pediatrician can answer the others.

Answer 2

I dont know the answers to all the questions, but I can help. Most genetic diseases are inherited as recessive genes and involve mistakes in enzyme formation. PKU is an absence of an enzyme needed to metabolize amino acid. If it is not detected early, mental retardation can occur. It is identified by urine analysis of a newborn infantand it can be avoided by treatment with a diet lacking foods with PKU.