Metabolic Genetics Clinic

• What are inborn errors of metabolism (IEMs)?

IEMs are rare genetic disorders caused by deficiencies in metabolic enzymes.  Enzymes are protein machines that drive chemical reactions in the body. Metabolism is the body’s process of using the components of our diet for energy, growth and normal bodily functions. The most common processes affected by IEMs are intake of carbohydrates, protein, fat and certain vitamins. IEMs affect the body’s ability to use these nutrients appropriately and can result in a toxic build-up affecting multiple organ systems.

• How are IEMs diagnosed?

Metabolic disorders are diagnosed by the Georgia Department of Public Health’s Newborn Screening Program (NBS), as required by law.

For more information, please visit our Newborn Screening page.

• Why is it it important to be seen for an IEM?

IEMs are rare, but imperative to treat at an early stage for the best outcomes. Treatment can help prevent many symptoms of IEMs, which include, but are not limited to: failure to thrive, seizures, other neurological impairments, developmental delay, other organ involvement (such as the kidneys or heart), or in severe cases, coma or death.

The Emory Metabolic team provides diagnostic workup and management for the following IEMs:

• Aminoacidopathies (PKU, Tyrosinemia, MSUD, HCU, Hypermethioninemia)
• Fatty acid oxidation disorders (CUD, LCHADD, MCADD, TFP, VLCADD, CPT1/2)
• Glycogen storage disorders (GSD1, GSDIII, GSDIV)
• Lysosomal storage disorders (LSDs)
• Mitochondrial disorders
• Organic acid disorders (BKT, Cbl A/B/C, GA1/2, HMG, IVA, 3MCC, MCD, MMA, PA)
• Urea Cycle Disorders (OTC, Citrullinemia, ASA, Arginase, CPS, HHH)
• Other – Galactosemia, F61BP, HFI, Biotinidase, Krabbe, MTHFR

TREATMENT OPTIONS FOR IEMs

• Clinical research trials
• Enzyme replacement therapy
• Gene therapy
• Liver transplant
• Nutrition intervention (lifelong dietary management, medical formulas and foods)
• Pharmaceutical treatment(s)

EMORY METABOLIC GENETICS TEAM

The Emory Metabolic Genetics Team consists of interdisciplinary collaboration between our biochemical geneticists, genetic counselors, metabolic dietitians, clinical support staff and our research groups.   

Our clinical team:

• Please visit our Emory Genetics Physicians, Genetic Counselors & Metabolic Dietitians page for our current team.

Our research:

• For information on IEM and metabolic nutrition research, please visit Singh Research Group.
• For information on other genetic clinical trials, please visit Genetics Clinical Trial Center.

For Patients:

• Georgia DPH NBS Information
  Information on Georgia DPH NBS program.
• Georgia PKU Connect
  PKU support group for families and individuals in the state of Georgia/southeast
• Genetic Disorders Fact Sheets for Parents
  For families that have received an initial diagnosis via newborn screening
• Medical Nutrition Therapy for Prevention (MNT4P)
  MNT4P provides nutrition support that includes bridging the gap for coverage of medical foods, low-protein modified foods, and treatment-related supplies, assisting patients with insurance navigation, and providing comprehensive medical nutrition therapy.
• Metabolic Camp
  Emory Metabolic summer camp lead annually by the Singh Research Group for girls >12 years old with PKU and MSUD.
• MitoAction
  Mitochondrial and FAOD support group.
• National Organization for Rare Diseases (NORD)
  National organization providing patient support and advocacy groups for patients with rare disease.
• National PKU Alliance (NPKUA)
  National organization for PKU patient support and advocacy.
• National Urea Cycle Disorders Foundation (NUCDF)
  National organization for urea cycle patient support and advocacy.
• NBS Disorder Fact Sheets (English & Spanish)
  Fact sheets and general information on certain metabolic disorders.
• Organic Acidemia Association (OAA)
  National organization for organic acidemia patient support and advocacy.
  
  

For Providers:

• American College of Medical Genetics and Genomics (ACMG)
• Genetic Metabolic Dietitians International (GMDI)
• Southeast Regional Genetics Network (SERN)
• Society for Inherited Metabolic Disease (SIMD)

For Providers:

• To make a referral, please visit Refer A Patient page on our website.

For Patients:

• To schedule an appointment, request a medical food, and/or prescription refill, please call the main clinic number at 404-778-8570.
• You can also send us a MyChart message.