Our team of experts at the Metabolic Genetics Clinic diagnoses and provides comprehensive care for children with inherited metabolic disorders, also known as inborn errors of metabolism. Children referred to our clinic for evaluation for a potential underlying inherited metabolic disorder present with a wide spectrum of issues, including failure to thrive, vomiting, hypoglycemia, altered mental status and recurrent unexplained illness.
In addition, we evaluate newborns with abnormal newborn metabolic screen results. Almost all babies born in Maryland are screened for more than 50 inherited metabolic diseases that can be treated if detected early. Specialists at our Metabolic Genetics Clinic evaluate newborns with abnormal screens right away, determine if the newborn screen is false positive or the baby is truly affected, and initiate treatment in a timely manner.
Our team of experts at the Lysosomal Storage Disease Center work to accurately diagnose lysosomal storage disease and provide treatment plans tailored to your needs.
Maryland Department of Health Newborn Screening Parents Page
Guthrie, Kelsey, M.G.C., C.G.C. - Certified Genetic CounselorExpertise, Disease and Conditions: Metabolic Disorders, Hereditary Hemorrhagic Telangiectasia, General Genetics
Schatz, Krista, M.S., C.G.C. - Certified Genetic CounselorExpertise, Disease and Conditions: Newborn Screening for Lysosomal Storage Disorders, Inborn Errors of Metabolism, Mitochondrial Disease, Pediatric and Adult Genetics, Neurofibromatosis Types 1 and 2 and Schwannomatosis, Pediatric Neurology
Dempsey, Angela, R.D., L.D.N., C.N.S.C. - Senior NutritionistExpertise, Disease and Conditions: Inborn Errors of Metabolism, Mitochondrial Disease, Acute and Chronic Nutrition Support
Koerner, Celide, M.S., R.N. - Senior Research NurseExpertise, Disease and Conditions: Inborn Errors of Metabolism, Maternal Phenylketonuria
For more information, visit the Johns Hopkins Metabolic Genetics Clinic.
Conditions We Treat
- Abnormal newborn screen
- Altered mental status
- Developmental delay, intellectual disability
- Failure to thrive, growth retardation
- Feeding intolerance, recurrent vomiting
- Liver disease
- Muscle weakness, muscle breakdown
- Progressive deterioration of neurologic function
- Recurrent hypoglycemia
- Recurrent unexplained illness with dehydration and acidosis
We also diagnose and treat patients who have a wide range of metabolic conditions.
Metabolic Emergencies ONLY
To reach a member of the Metabolic Genetics Clinic on-call team, patients and health care providers should call 667-239-0265 (available 24 hours/day, 7 days a week).
Metabolic emergencies may include high ammonia, metabolic acidosis, abnormal newborn screenings and pregnancy in patients with phenylketonuria or other inborn metabolic diseases. To request to transfer a patient who is an inpatient at another hospital to a hospital in the Johns Hopkins Health System, call the Hopkins Access Line.
LocationDavid M. Rubenstein Child Health Building
200 N. Wolfe Street
Baltimore, MD 21287