Amino acid catabolism disorder

Amino Acid Catabolism Disorders

Amino acid catabolism disorders are inherited genetic disorders that interfere with the body’s ability to break down and process certain amino acids. They can lead to serious health problems, including developmental delay, seizures, and even death in some cases. Treatment may include dietary modifications, medications, and/or specialized formulas.

In the body, amino acids are broken down into molecules that can be used for energy or in the formation of new proteins. An amino acid catabolism disorder occurs when an enzyme in the body does not work properly and leads to the buildup of certain amino acids. As a result, the body’s tissues and cells become overwhelmed with these metabolites and can’t function properly.

Common signs and symptoms of amino acid catabolism disorders include:

  • Poor feeding
  • Hypoglycemia
  • Elevated blood amino acid levels
  • Developmental delay/intellectual disability
  • Seizures
  • Vomiting
  • Jaundice
  • Organomegaly

These disorders are typically identified on newborn screening tests, which measure certain substances in the blood. Genetic tests also can be used to diagnose amino acid catabolism disorders. Treatment usually consists of a combination of dietary modifications, medications, and/or specialized formulas.

Dietary modifications may include avoiding foods that are high in certain amino acids. Supplementation with vitamins and minerals may also be necessary. Medications such as diuretics and laxatives can be used to treat certain disorders. Finally, specialized formulas are available for those with metabolic disorders.

It is important to note that amino acid catabolism disorders can be difficult to diagnose and treat. If you think your child may have an amino acid catabolism disorder, talk to your doctor about the possibility of doing tests to determine the cause.