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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

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.

Questions? We're here to help.

Our appointment specialists are ready to help you find what you need. Contact us today.

Treatments

  • 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.


Tests

  • 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.

Accepted Insurances

Note: Health plans that are currently contracted with UHealth are listed below. However, please check with your insurance provider to verify that UHealth is part of your provider network.

  • Aetna WC
  • Aetna Affiliates/Signature Adm (ASA)
  • Aetna Behavioral Health
  • Aetna Elect Choice (EPO)
  • Aetna Florida Healthy Kids
  • Aetna HMO
  • Aetna Medicaid HMO
  • Aetna Medicare HMO
  • Aetna Medicare PPO
  • Aetna POS
  • Aetna PPO
  • Aetna UM Employee HMO 1
  • Aetna UM Employee HMO 2
  • Aetna UM Employee POS HRA
  • Aetna/Coventry Institutes of Excellence (IOE)
  • Amerigroup Florida Healthy Kids
  • Amerigroup Medicaid HMO
  • Argus Vision
  • AvMed Choice
  • AvMed HMO/POS
  • AvMed MDC and JHS Groups
  • AvMed Medicare HMO
  • AXIS
  • BCBS Blue Options Network Blue PPO
  • BCBS BlueCare HealthOptions HMO
  • BCBS BlueChoice PPC/PPO
  • BCBS Miami Dade Blue PPO Limited Benefits Plan
  • BCBS of Florida (All products except "SELECT" Plans)
  • BCBS of Florida (Commercial plans exclude HIX Select)
  • BCBS Traditional PHS/PPO
  • Beacon Health (ValueOption)
  • Beech Street PPO
  • Broward Health Medical Center
  • CarePlus Medicare HMO
  • Catholic Hospice
  • CCP/CMS Title XIX (Medicaid Enrolled in South Florida)
  • CCP/CMS Title XXI (Non Medicaid Enrolled in South Florida)
  • CCP/MMA (Broward County residents)
  • Charlotte County Sheriffs Office PPO
  • Cigna Affiliates
  • Cigna Behavioral Health
  • Cigna Dental HMO/PPO
  • Cigna EPO
  • Cigna HMO
  • Cigna Life Source (Intracorp is part of Cigna Lifesource)
  • Cigna MDCPS Jackson Sr. High
  • Cigna POS
  • Cigna PPO
  • Cigna Shared Administration
  • Clear Health Alliance SNP Medicaid HMO
  • Concordia Behavioral Health
  • CorVel WC
  • Coventry First Health WC
  • Coventry Health Care of Florida (HIP) HMO/POS
  • Coventry Health Care of Florida (HIP) PPO
  • Coventry Health Plan of Florida (Foundation) HMO
  • Coventry Health Plan of Florida (Foundation) POS
  • Coventry National PPO
  • Coventry Summit Medicare HMO
  • Coventry Vista Medicare HMO
  • Coventry First Health PPO
  • Delta Dental PPO
  • DentaQuest (ADI)
  • DIKLA
  • Dimension WC
  • Dimension Plus PPO
  • EHN PPO
  • EQUIAN (Health Systems International)
  • Europe Assistance/Global Corporate Solutions (Care Management Network)
  • eyeQuest
  • FCCI WC
  • Florida Healthcare Plan (Affiliate of BCBSFL)
  • Florida PACE (FPC)
  • Freedom Health Medicaid HMO
  • Freedom Health Medicare HMO
  • Gallagher Bassett WC (MDCPS & FCSRMC)
  • Global Excel Mgt PPO
  • Great West (Cigna) HMO/POS
  • Guardian Life PPO
  • HAA Preferred Partners
  • Health First Health HMO/POS
  • Health First Health Medicare HMO
  • Health First Health PPO
  • Health Net Veterans Choice HMO
  • Heritage Summit Healthcare WC
  • Humana Behavioral Health (LifeSynch)
  • Humana Dental/CompBenefits/OHS
  • Humana EPO
  • Humana HMO
  • Humana Medicaid HMO
  • Humana Medicare HMO
  • Humana National Transplant
  • Humana PPO
  • Humana Premier
  • iCare Health Solutions
  • Interlink Health Services
  • International Kids Fund (IKF)
  • League Medical Concepts Federal Inmates
  • Life Trac
  • Magellan Behavioral Health
  • Magellan Complete Care SNP Medicaid HMO
  • MDAbroad
  • Medica Medicare HMO
  • Medical Development In't (MDI)-Federal Inmates
  • Medicus
  • Metlife Dental PPO
  • MHNet Behavioral Network (MHNet)
  • Molina
  • Molina Market Place
  • Molina Medicaid HMO
  • Molina Medicare HMO
  • Morgan White International
  • MultiPlan PPO
  • Naphcare (Federal Prisoners)
  • National Healthcare Solutions Inc.
  • Neighborhood HealthPlan HMO/POS
  • Neighborhood HealthPlan PPO
  • North Broward Hospital District PPO
  • Olympus Managed Healthcare
  • Optum
  • Positive Healthcare SNP Medicaid HMO
  • Positive Healthcare SNP Medicare HMO
  • Prestige Health Choice Medicaid HMO
  • Prime Health Services WC
  • Quality Health Management
  • Religious Order of Jehovah's Witnesses PPO
  • Rockport Healthcare Group WC
  • Royal Caribbean Cruises PPO
  • Sanus Health Corporation
  • Seasons Hospice
  • Simply Healthcare Medicaid HMO
  • Solstice Dental HMO/PPO
  • Start Healthcare Network
  • Sunshine
  • Sunshine AMBETTER
  • Sunshine Healthy Kids HMO
  • Sunshine Medicaid HMO
  • Sunshine Medicare HMO
  • Tricare South Prime HMO
  • Tricare South Standard PPO
  • United Behavioral Health (UBH)
  • UnitedHealthcare Affiliates
  • UnitedHealthcare Healthy Kids HMO
  • UnitedHealthcare HMO/POS
  • UnitedHealthcare Medicaid HMO
  • UnitedHealthcare Medicare Nursing Home Plan
  • UnitedHealthcare PPO
  • University of Miami Athletic Dept PPO
  • VUMI
  • Wellcare/Staywell Healthy Kids HMO
  • Wellcare/Staywell Medicaid HMO
  • Wexford Health State Inmates
  • Worldwide Managed Care