Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare hereditary disease in which an amino acid called phenylalanine builds up in the body. PKU is caused by a defect in the gene that helps create the enzymes needed to break down phenylalanine. Phenylketonuria (PKU) Treatment in Nizamabad
Without the enzyme needed to process phenylalanine, dangerous build-up can develop when a person with PKU eats protein foods or aspartame, an artificial sweetener. This can eventually lead to serious health problems.
For the rest of their lives, people with PKU – babies, children, and adults – must follow a diet that limits phenylalanine, which is found primarily in protein foods.
Babies in the US and many other countries are screened for PKU soon after they are born. Detecting PKU right away can help prevent serious health problems.
Newborns with PKU initially have no symptoms. However, if left untreated, babies usually develop signs of PKU within a few months.
The signs and symptoms of PKU can be mild or severe and include:
- A musty odor in your breath, skin, or urine caused by too much phenylalanine in the body
- Neurological problems that can include seizures
- Skin rashes (eczema)
- Fair skin and blue eyes, as phenylalanine cannot turn into melanin – the pigment responsible for skin tone and hair
- Unusually small head (microcephaly)
- Limited intellect
- Delayed development
- Behavioral, emotional, and social problems
- Mental disorders
- Autosomal recessive inheritance model
- Autosomal Recessive Inheritance PatternOpen Context Dialog
- A defective gene (genetic mutation) causes PKU, which can be mild, moderate, or severe. In a person with PKU, this defective gene causes a deficiency or deficiency in the enzyme that is needed to process the amino acid phenylalanine.
A dangerous build-up of phenylalanine can arise when a person with PKU eats high protein foods like milk, cheese, nuts, or meat, and even cereals like bread and pasta or aspartame, an artificial sweetener. This build-up of phenylalanine damages the nerve cells in the brain. Phenylketonuria (PKU) Treatment in Nizamabad
Risk factors for inheriting PKU include:
Both parents have a defective gene that causes PKU. Two parents must pass on a copy of the defective gene so that their child can develop the disease.
Be of a certain ethnic origin. The genetic defect that causes PKU varies between races and is less common in African Americans than in other races.
If you have PKU and are planning to become pregnant:
Eat a diet that is low in phenylalanine. Women with PKU can prevent birth defects by following or returning to a low-phenylalanine diet before pregnancy. If you have PKU, talk to your doctor before trying to conceive.
Consider genetic counseling. If you have PKU, a close relative with PKU, or a child with PKU, you may also receive genetic counseling before getting pregnant. A doctor (geneticist) who specializes in medical genetics can help you better understand how PKU is transmitted through your family tree. He or she can also help you determine the risk of having a child with PKU and plan your family. Phenylketonuria (PKU) Treatment in Nizamabad