An Overview

Inborn errors of metabolism are genetic conditions that affect the way the body uses certain biochemical processes to produce, break down, and store energy. These disorders can cause a wide range of symptoms, from mild to life-threatening.

While the exact number of metabolic disorders is not known, it is estimated that about one in every 2500 babies is born with some form of metabolic disorder.

Here are some different types of inborn errors of metabolism.

Fructose intolerance
Galactosemia
Maple sugar urine disease (MSUD)
Phenylketonuria (PKU)

Causes of Inborn Errors of Metabolism

Inborn errors of metabolism are caused by genetic mutations. These mutations can be inherited from a parent or occur spontaneously.

Genes provide instructions for making proteins that help control the chemical process of metabolism. Mutations in these genes can alter those metabolic processes and disrupt the body’s normal development and functioning.

Specifically, the mutated genes can result in a lack of the enzymes needed to process certain molecules into usable energy, which can lead to a buildup of these molecules in the body.

Symptoms of an Inborn Error in Metabolism

The symptoms of an inborn error of metabolism can vary widely depending on the particular disorder. Common signs and symptoms may include:

Unintended weight loss, or a failure to gain weight and grow in babies and children
Tiredness and lack of energy
Hypoglycemia or low blood sugar
Poor feeding habits
Stomach problems or vomiting
High levels of acid or ammonia in the blood
Abnormal liver function
Developmental delays in babies and children
Seizures or other central nervous system problems

It is important to remember that the symptoms associated with inborn errors of metabolism can be vague and non-specific. Many metabolic disorders can look similar to other health conditions.

For this reason, it is important to seek medical evaluation and specialized metabolic testing to determine the exact cause and diagnose the disorder.

Diagnosis of Inborn Errors of Metabolism

Newborn Screening Tests

Most inborn errors of metabolism are diagnosed through newborn screening tests. Every newborn should go through these blood tests within hours of birth.

Genetic Testing

Clinical geneticists (medical doctors who specialize in genetics) can use blood samples and genetic testing to identify which inborn error of metabolism your child has.

Urine Organic Acid Test

This blood test looks for amino acids in the urine, a sign of an inborn error in metabolism.

Plasma Amino Acid Test

This blood test looks for amino acid buildup in the blood, a sign of an inborn error in metabolism.

Treatment of Inborn Errors of Metabolism

Treatment for IEM-related disorders usually focuses on the management of symptoms, the reduction of harmful substances in the body, the correction of dietary deficiencies, and the prevention of complications. Some cases may require:

Medications,
Dietary changes,
Nutritional supplements
Surgery
Other treatment approaches

Prevention of Inborn Errors in Metabolism

There is no 100% foolproof way to prevent the genetic mutations that cause inborn errors in metabolism.

However, individuals with a family history of such disorders should speak to their doctor about genetic counselling, which can help them understand their risks and identify other potential signs and symptoms to look out for.

Conclusion

Inborn errors of metabolism are a group of genetic disorders that can have a wide range of symptoms. Many of these disorders can be treated through dietary or medical intervention, and careful management of symptoms can help people live long and healthy lives.

While inborn errors of metabolism have a significant impact on quality of life, with the right care and support, people can live long and fulfilling lives.

Request an appointment at Apollo Cradle, Bengaluru - Jayanagar. Call 1860-500-4424 to book an appointment.

1. Is there a cure for inborn errors of metabolism?

While there is no cure for inborn errors of metabolism, treatments, and dietary modifications can help minimize symptoms and prevent complications.

2. What are some common types of inborn errors of metabolism?

Common inborn errors of metabolism include phenylketonuria (PKU), galactosemia, homocystinuria, fructosemia, glucogen storage disorders, and fatty acid oxidation defects.

3. How is an inborn error of metabolism diagnosed?

Inborn errors of metabolism can be diagnosed through a combination of clinical examination, tests, and genetic testing. Tests may include glucose, amino acids, and organic acid tests. Genetic testing can also confirm the diagnosis.

4. What are the possible complications of inborn errors of metabolism?

Complications of inborn errors of metabolism can include stunted growth, mental retardation, seizures, organ failure, impaired vision, and death.

5. What research is being done to advance the treatment of inborn errors of metabolism?

Researchers are currently studying new and more effective treatments, such as gene therapy and enzyme replacement therapy, to better manage and treat inborn errors of metabolism.