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Phenylketonuria (PKU)

Diseases and Conditions Phenylketonuria (PKU)
Overview Types Causes & Risk Factors Symptoms Preventions Treatment
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Overview

Phenylketonuria (PKU) is a rare genetic disorder that affects the breakdown of the amino acid phenylalanine. This disorder occurs when a person's body is unable to break down phenylalanine, which is a building block of proteins. As a result, phenylalanine builds up in the body, leading to serious health problems.

Types of Phenylketonuria (PKU)

PKU is classified into two main types:

  1. Classic PKU: This type is characterized by a severe deficiency of the enzyme phenylalanine hydroxylase (PAH), which is responsible for breaking down phenylalanine.
  2. Mild PKU: This type is characterized by a partial deficiency of PAH, which can lead to milder symptoms.

Causes of Phenylketonuria (PKU)

PKU is caused by a mutation in the PAH gene, which codes for the enzyme PAH. This mutation prevents the enzyme from functioning properly, leading to a buildup of phenylalanine in the body.

Risk Factors of Phenylketonuria (PKU)

The following risk factors may increase the likelihood of developing PKU:

  1. Family History: Having a family history of PKU increases the risk of developing the disorder.
  2. Genetic Mutations: Carrying a mutation in the PAH gene increases the risk of developing PKU.
  3. Ethnicity: PKU is more common in certain ethnic groups, such as Caucasians and Ashkenazi Jews.

Symptoms of Phenylketonuria (PKU)

The symptoms of PKU can vary depending on the severity of the disorder and the age of onset. Common symptoms include:
1. Seizures: Seizures are a common symptom of PKU, particularly in infants.
2. Developmental Delay: Children with PKU may experience developmental delays, such as delayed speech and language skills.
3. Intellectual Disability: Untreated PKU can lead to intellectual disability and cognitive impairment.
4. Skin problems: Skin problems, such as eczema and dry skin, are common in people with PKU.
5. Behavioral Problems: People with PKU may experience behavioral problems, such as irritability and hyperactivity.

Preventions of Phenylketonuria (PKU)

PKU can be detected through newborn screening tests, which are typically performed on all newborn babies. If left untreated, PKU can lead to serious health problems and intellectual disability.

Diagnosis of Phenylketonuria (PKU)

Diagnosis and evaluation of PKU typically involve:

  1. Newborn Screening Tests: Newborn screening tests are used to detect elevated levels of phenylalanine in the blood.
  2. Genetic Testing: Genetic testing may be performed to confirm the diagnosis and identify specific genetic mutations.
  3. Enzyme Assays: Enzyme assays may be performed to assess the activity of the PAH enzyme.

Treatment for Phenylketonuria (PKU)

Treatment and management of PKU typically involve:

  1. Dietary Restriction: A strict diet that limits protein intake and restricts foods that contain phenylalanine is recommended.
  2. Phenylalanine-Free Diet: A diet that is completely free of phenylalanine is recommended for individuals with severe PKU.
  3. Supplements: Supplements that contain other amino acids may be prescribed to help manage symptoms.
  4. Medications: Medications may be prescribed to manage symptoms such as seizures and behavioral problems.

When to seek medical attention ?

If you suspect that you or your child has PKU, it is essential to see a doctor for proper diagnosis and treatment.

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