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    Metabolic genetics

    Genetic specialists at Dell Children's in Central Texas diagnose and treat children and adults with inherited metabolic disorders.

    CALL - 512-628-1840
    Mom holding baby at doctors visit.

    Metabolic genetics at Dell Children’s

    Experienced metabolic genetic specialists at Dell Children's Medical Center in Austin, Texas diagnose, evaluate and treat inherited metabolic disorders (sometimes referred to as inborn errors of metabolism) in children as well as adults. Metabolic disorders are rare conditions that disrupt chemical processes in the body and affect the body’s ability to get energy from food and recycle chemicals in the body. Symptoms of inherited metabolic disorders may appear in infancy and may be detected on a newborn screening test. Sometimes symptoms do not appear until childhood or even adulthood. Your doctor may also recommend genetic testing if you have a family history of a possible or known metabolic disorder. 

    Signs and symptoms of a metabolic disorder in newborns and children may include:

    • An abnormal newborn screen
    • Abnormal heart rate or breathing pattern
    • Abnormal acid-base status
    • Failure to thrive
    • Low blood sugar (hypoglycemia)
    • Low energy levels
    • Muscle weakness or decreased muscle tone (hypotonia)
    • Neurological symptoms, including developmental delay or regression, and seizures
    • Gastrointestinal symptoms, including vomiting, diarrhea, food aversion, and intolerance

    Diagnosing metabolic genetic disorders

    Before your appointment or your child’s appointment, we take the time to review medical records and any other documents you have shared with us. If your referring doctor or your child’s referring doctor has any concerns before the appointment, we are available to answer their questions and provide guidance on testing. In some cases, we can recommend other tests that do not require a visit with a genetic specialist. Our goal is to help you and your doctor find the right testing option for you or your child. 

    We start each visit by listening and addressing any concerns. Your specialist reviews previous medical records, growth charts and previous labs. Using a combination of blood, urine, enzyme and DNA analysis, your genetic specialist starts the evaluation process. Then, a diagnosis is made. These conditions can be complex and unfamiliar, so your genetic specialist takes the time to fully explain the diagnosis and answer all of your questions. 

    Inherited metabolic disorders we treat include:

    • Galactosemia
    • Lysosomal storage diseases
    • Medium chain acyl-coA dehydrogenase deficiency (MCAD)
    • Phenylketonuria (PKU)
    • Urea cycle enzyme defects
    • Other inborn errors of metabolism

    Comprehensive care for your child

    Your genetic specialist works with you to create an individualized care plan. Treatments typically include diet changes, medication and other therapeutics, such as enzyme replacement therapy. Our goal is to deliver care that helps improve your or your child’s quality of daily life.

    Multidisciplinary care teams

    When you choose Dell Children’s, your family is connected to the most pediatric specialists in Central Texas. That means if your child has a complex condition, we work closely with other pediatric specialists and referring doctors at Dell Children’s, including endocrinologists, neurologists, orthopedic specialists, gastroenterologists (GI doctors), pulmonologists, cardiologists, hepatologists, pharmacists, dietitians and more. Together, we collaborate on your child’s care plan to deliver comprehensive care. And your child benefits from having the expertise of multiple specialists.

    Frequently asked questions

    • How do I schedule an appointment?
    • Is there anything I can do to schedule an appointment sooner?
    • How much does genetic testing cost?
    • When will my child’s genetic testing results be ready?