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What is What is phenylketonuria? ? – A-Z Disease

Definition

What is phenylketonuria?

Phenylketonuria, also known as Phenylketonuria (PKU), is a genetic disorder where your body cannot break down the amino acid phenylalanine. An enzyme in your body called phenylalanine hydroxylase can process phenylalanine into tyrosine to create neurotransmitters, such as epinephrine, norepinephrine, and dopamine.

As a result of this genetic disorder, phenylalanine will accumulate in your body, and on the other hand there is not enough tyrosine to form new cells. This can cause serious health complications.

People with PKU need to follow a strict diet with a limited amount of protein. Phenylalanine in your body comes from the protein you consume, especially protein-rich foods, such as meat, fish, eggs, cheese and milk.

How common is phenylketonuria?

This condition is rare and is a hereditary disorder, where babies are born with this disease. Discuss with your doctor for more information.

Signs & Symptoms

What are the signs and symptoms of phenylketonuria?

Phenylalanine plays a role in the production of melanin in the body, the pigment responsible for skin and hair color. Therefore, babies with this condition often have lighter colored skin, hair and eyes than siblings who do not have this condition.

Tyrosine, another product of the phenylalanine process, is used to make neurotransmitters. This lack of amino acids can cause damage to the brain and nervous system, which is characterized by the following symptoms:

  • Depression
  • Anxiety disorders
  • Phobias
  • Low confidence.

If left untreated, this condition can cause serious complications in children:

  • Irreparable brain damage, and intellectual impairment during the first few months
  • Behavioral disorders and convulsions in older children

There may be signs and symptoms not mentioned above. If you have a concern about a specific symptom, consult your doctor.

When should I see a doctor?

You should contact a doctor if you experience the following symptoms:

  • If you are a woman planning a pregnancy, do a genetic examination before having children
  • If your baby has PKU, your doctor will provide a low-protein diet to prevent long-term harm
  • Adults with PKU must get lifetime health care.

If you have any of the above signs or symptoms or other questions, consult your doctor. Each person's body is different. Always consult a doctor to treat your health condition.

Cause

What causes phenylketonuria?

Phenylketonuria is a genetic condition where the PAH gene responsible for producing phenylalanine hydroxylase is not normal.

Maybe parents have abnormalities in the gene but symptoms do not occur. Therefore, PKU was passed down to the children of both parents carrying this disorder, without realizing it.

Risk factors

What increases my risk for phenylketonuria?

There are several risk factors for phenylketonuria, namely:

  • Having both parents with PKU gene abnormalities. Both parents must inherit a copy of the mutated PKU gene so the child has this condition.
  • Have certain offspring.

Medicines & Medications

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

How is phenylketonuria diagnosed?

Phenylketonuria can be identified by a blood test at the birth of a child. This test can also tell if there are other medical conditions that are worrying. If the test results are positive, further blood and urine tests and genetic tests will be needed to confirm the diagnosis.

Adults with PKU will also need a blood test to measure the levels of phenylalanine in the blood.

What are the treatments for phenylketonuria?

Treatment is done as soon as you are diagnosed with this condition. In some cases, treatment is carried out after delivery. The doctor will advise parents of foods that are not good for children. The main treatment for PKU is a low-protein diet that avoids protein-rich foods, such as meat, eggs and dairy products, as well as controlling the intake of other foods, such as potatoes and cereals. This diet will continue into adulthood. You also need to give your child amino acid supplements.

In adults, the same diet is also given, although adults are more tolerant of high protein foods. As a result, some people may feel unable to function properly, such as losing concentration or reacting more slowly. Some may not experience problems and live life normally. In pregnant women, a strict low-protein diet is recommended to prevent complications in the fetus.

There are several formulas that are specific to babies with PKU, and can be used as a very low protein source of phenylalanine and balanced for the remaining amino acids.

Home remedies

What are some lifestyle changes or home remedies that can be done to treat phenylketonuria?

Here are lifestyle and home remedies that can help you deal with phenylketonuria:

  • Do genetic testing before having children
  • Choose foods with a low protein version
  • Record protein intake
  • Try low-protein recipes
  • Plan before eating
  • Educate yourself, friends and family about your condition.

If you have questions, consult your doctor for the best solution for your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.

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