Question

Mr. and Mrs. B have four children. All were seemingly healthy pregnancies, without complications. When the last child was tested for PKU shortly after birth (as required by law), the results indicated toxic levels of phenylalanine breakdown products in the blood.

Explain how dietary changes can affect the expression of PKU. (See Autosomal Recessive Disorders—Phenylketonuria.)

Discuss the cause of the disease and the probable percentages of inheritance of the disease in children the couple might have in the future. (See Autosomal Recessive Disorders—PKU.)

Answer 1

Explain how dietary changes can affect the expression of PKU. (See Autosomal Recessive Disorders—Phenylketonuria.)

The main treatment intervention to treat the expression of PKU will be of dietary changes. Dietary restrictions such as foods containing phenylalanine and the special foods inclusive of lofenalac, a special formula will be followed throughout their life to manage their manifestations and to have a healthy life. too much of proteins to be avoided but normal protein requirement should be met.

Discuss the cause of the disease and the probable percentages of inheritance of the disease in children the couple might have in the future. (See Autosomal Recessive Disorders—PKU.)

It is caused by the defect in PAH gene. As it is responsible for breaking down of phenyl alanine by secreting ann enzyme called phenylalanine hydroxylase.

A dangerous amounts of phenylalanine builds up in an individual who consume more amounts of protein like egg and meat.

Both the parents will pass the defective genes to their children. If any one of the parent pass the defective gene, the child won't manifest but they will be the carrier of the gene.