Question

Write about Phenylketonuria.

Answer 1

Phenylketonuria:

1. It is an autosomal recessive disease., caused by the deficiency of the phenylalanine hydroxylase enzyme.
2. Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to develop in the body.
3. Amino acids are the building blocks of protein.
4. Phenylalanine is found in all proteins and some artificial sweeteners.
5. Phenylalanine hydroxylase is an enzyme our body requires to convert phenylalanine into tyrosine, which the body needs to form neurotransmitters such as epinephrine, norepinephrine, and dopamine.
6. PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase.
7. When this enzyme is missing, the body can’t break down phenylalanine and this results in a buildup of phenylalanine in your body.

The symptoms of this disease are:

1. Seizures
2. Tremors, or trembling and shaking
3. Stunted growth
4. Hyperactivity
5. skin conditions such as eczema
6. A musty odor of their breath, skin, or urine

If PKU isn’t diagnosed at an early stage and treatment isn’t started instantly, the disorder can lead to:

1. irreversible brain damage and intellectual disabilities within the first few months of life
2. problems in behavior and seizures in grown-up children.

Test for PKU:

1. To test phenylketonuria, the 10% FeCl test is used.
2. If it gives green color to urine, it shows that the result is positive.
3. The express tests are used to detect phenylketonuria right after delivery.