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Inborn Errors of Metabolism


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Children with inborn errors of metabolism are born with genetic conditions that affect specific molecules, usually enzymes, in their body. These enzymes help turn food into energy (metabolism). When enzymes cannot process food correctly, substances like amino acids and sugars build up in the body. These substances can damage the nervous system, resulting in intellectual disability, liver problems, or other conditions.

Examples of inborn errors of metabolism include:

  • Fructose intolerance
  • Galactosemia
  • Maple syrup urine disease (MSUD)
  • Phenylketonuria (PKU)
  • Fatty acid oxidation defects
  • Lysosomal storage disorders
  • Mitochondrial disorders


Specialized Diet
Many inborn errors of metabolism aren’t curable, but they may have effective treatments. Registered dietitians can create specialized diets for children with these conditions. Children will need to follow these diets for life to prevent organ damage and other serious problems. Our metabolic dietitian is highly experienced with 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. We are one of the three newborn screening referral centers in the State of Florida. This means that if your baby is screened positive for one the disorders on the screening list, our expert clinical geneticists will evaluate your child and provide the most appropriate treatment immediately.

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

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

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.

Why Choose UHealth?

Innovative treatment designed for you. Using advanced genetic tests, our genetics experts identify the exact cause of your child's condition and provide treatment based on your child’s genes. We are one of the few hospitals in South Florida to offer these targeted, personalized treatments as well as the latest clinical trials. We also have a specialized diagnostic laboratory for inborn errors of metabolism. This means your child gets more testing and treatment options designed just for them.

A team approach to your care. Our clinical geneticists (medical doctors who specialize in genes and heredity) work alongside expert physicians in oncology, neurology, pediatrics, cardiology, otolaryngology, ophthalmology, and other specialties to give you the most comprehensive care in South Florida — all in one place. Whether you receive care in our multidisciplinary clinics or a general clinic, we ensure you receive personalized treatment specific to your needs. Our dedicated genetic counselors, medical geneticists, and other medical staff support you and your family in all steps of your medical journey.

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