Inborn Errors of Metabolism

Also known as: Phenylketonuria, fructose intolerance, galactosemia, maple sugar urine disease.

What are inborn errors of metabolism?

If a baby is having trouble digesting certain foods and turning them into energy, these are known as inborn errors of metabolism. There are a variety of different medical conditions that fit into this category, and they can cause different symptoms depending on their nature and severity.

What causes inborn errors of metabolism?

Inborn errors of metabolism are genetic disorders that are inherited from one or both parents.

What are the symptoms of inborn errors of metabolism?

A variety of symptoms can occur due to inborn errors of metabolism. These can include:

  • Poor feeding
  • Irritability
  • Jaundice
  • Sleepiness
  • Vomiting
  • Convulsions
  • Poor weight gain
  • Low tone
  • Coma

 

What are inborn errors of metabolism care options?

Inborn errors of metabolism are typically treated with dietary changes. This may start with a special infant formula and then transition to a unique diet as the child grows older. In some instances, medication may also be taken to help with symptoms related to the condition


Reviewed by: Parul B Jayakar, MD

This page was last updated on: 5/2/2018 10:06:58 AM



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Dr. Muñiz-Crim is employed by Pediatric Specialists of America (PSA), the physician-led group practice of Miami Children's Health System, and is the PSA Section Chief for Pediatric Gastroenterology.

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