Pediatric genetics, close to home
Medical geneticists at Dell Children's - Metabolic Genetics Mueller in Austin have the expertise to evaluate and manage inborn errors of metabolism (IEM). These rare genetic disorders affect the body’s ability to change food into energy. Symptoms of inherited metabolic disorders may appear in infancy and may be detected on a newborn screening test. In some cases, symptoms do not appear until childhood or adulthood. Your doctor may also recommend genetic testing if you have a family history of a possible or known metabolic disorder.
Signs and symptoms in newborns and children may include:
- An abnormal newborn screen
- Abnormal heart rate
- Abnormal acid-base balance
- 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 seizure
- Gastrointestinal symptoms, including vomiting, diarrhea, food aversion and intolerance
Your genetic specialist starts by listening to you, to better understand you or your child and their health history. We start the evaluation process by using advanced diagnostics, including a combination of blood, urine, enzyme and DNA analysis. Your specialist also takes a detailed family history, and reviews previous medical records, growth charts and labs. Then, a diagnosis is made. Your specialist takes the time to fully explain the diagnosis and answer all of your questions.
Comprehensive care for metabolic genetic disorders
For children, our genetic specialists work with a team of pediatric specialists at Dell Children’s to create a personalized care plan. Treatments typically include diet changes, medication and other therapeutics, such as enzyme replacement therapy. Depending on the diagnosis, your care team may also include pediatric specialists in neurology, gastroenterology (GI), hepatology, nutrition, pharmacy, rehabilitation and more.
Have your doctor refer you to our specialists
A referral from your doctor is needed. To be referred to our specialists, please have your doctor call 512-628-1840 or fax 512-628-1841. Before scheduling an appointment, we work with you and your doctor to gather previous medical records and other documents. This includes: medical records, lab tests, genetic tests, growth charts and insurance authorization(s).