Inborn Errors Of Metabolism

What are Inborn Errors of Metabolism (IEM)?

Inborn errors of metabolism are rare genetic conditions that occur when the body is unable to properly convert food into energy due to defects in specific enzymes. When certain food products aren't broken down, they can build up in the body and lead to a range of symptoms. Some inborn errors of metabolism can cause developmental delays or other medical problems if they're not managed properly.

There are several different types of inborn errors of metabolism, such as fructose intolerance, galactosemia, maple sugar urine disease (MSUD), and phenylketonuria (PKU).

Newborn screening tests can help identify some of these disorders, and healthcare professionals, such as registered dietitians, can work with patients to develop a specialized diet plan that's appropriate for each specific disorder. It's important to properly manage these conditions to prevent long-term health problems.

Symptoms 

Children with inborn errors of metabolism may show certain signs on blood or urine tests.

These signs can include:

  • High lactate levels
  • Low blood sugar (hypoglycemia)
  • High ammonia levels (hyperammonemia)
  • Acid buildup in the blood (acidosis)
  • Elevated ketones in the urine
  • Increased levels of certain substances in urine

These tests can help doctors identify if a child has an inborn error of metabolism.

Causes

Inborn errors of metabolism are conditions that are passed down from parents to their children. They happen because of changes in genes that control how the body processes food and turns it into energy.

These conditions are usually inherited when both parents pass on the gene change to their child. In rare cases, it may be inherited when only one parent has the gene change or when it's passed down through the X chromosome.

Other things like the environment, how genes are expressed, and the community of microorganisms living in the gut can also affect how these conditions show up in someone who has inherited them.

It's important to remember that having an inborn error in metabolism does not mean that someone will have symptoms or health problems. Some people may never know they have the condition. Others may have mild to severe symptoms that need to be managed by a healthcare professional.

When to consult a doctor?

It's important to seek medical attention if you notice any signs or symptoms of a metabolic disorder in your newborn. While some metabolic disorders are screened for at birth, not all may be caught, so it's important to be vigilant. Early detection and treatment of inborn errors of metabolism can help prevent long-term health problems.

Treatment

Once an inborn error of metabolism (IEM) is diagnosed, the treatment plan is tailored to the specific disorder. The overall goal of treatment is to minimise or eliminate the buildup of toxic metabolites that can result from the block in metabolism, while also ensuring proper growth and development. This may involve specially modified diets, supplements, and medications. Treatment for metabolic disorders is highly dependent on the specific type of disorder. Some common treatment options include:

  • Modifying diet and lifestyle habits, such as avoiding foods that the body cannot properly handle or digest.
  • Taking medication to control certain symptoms, improve overall well-being, and reduce the risk of life-threatening emergencies.
  • Enzyme replacement therapy involves injecting missing or low levels of specific enzymes to help treat certain metabolic disorders.

Patients with IEM should see a doctor who specialises in metabolic disorders regularly. The frequency of these appointments may vary depending on the severity of the disorder, with severely affected patients likely requiring more frequent visits than those with mild or moderate forms of the disorder.

Request an appointment at Apollo Cradle, Hyderabad - Jubilee Hills. Call 1860-500-1066 to book an appointment.

1. How do I prevent Inborn Errors of Metabolism in my infant?

Inherited diseases can't be prevented, but pregnant women can take steps to protect their babies: take folic acid, avoid harmful substances, manage diabetes, prevent infections, and inform healthcare providers about pregnancy.

2. What are the different types of IEMs?

There exist various types of inborn errors of metabolism, which include conditions such as fructose intolerance, Gaucher disease, Maple sugar urine disease (MSUD), Phenylketonuria (PKU), and Urea Cycle Disorder (UCD).

3. Is there a higher probability of having an IEM if it runs in the family?

To determine the likelihood of inheriting an inherited metabolic disorder (IEM) in a family, it's important to consider factors such as the mode of inheritance, the gender of the at-risk family member, and whether genetic testing has been performed. Consulting with a metabolic specialist or genetic counsellor is recommended to identify at-risk family members and arrange genetic testing.

4. What tests are conducted for diagnosing IEM?

Most tests use urine or blood to detect substances in the body, but for some disorders, doctors may need to test tissues or do DNA testing.

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