Diagnosis and Treatment
How We Diagnose Metabolic Disorders
Prenatal Diagnosis:
Many inherited metabolic disorders can be found during pregnancy, which enables you to plan your baby's care before delivery and know what your baby will need after they are born. At the Carmen and John Thain Center for Prenatal Pediatrics at NewYork-Presbyterian Morgan Stanley Children’s Hospital and at the Fetal Care Center at NewYork-Presbyterian Komansky Children’s Hospital NewYork-Presbyterian, specialists from maternal-fetal medicine (high-risk pregnancy), pediatric neurology, genetics, and other sub-specialties collaborate to provide an advanced prenatal diagnosis for women whose babies are at risk for inherited metabolic disorders. If a metabolic disorder is found, we customize a plan of care to maximize the best possible outcomes for you and your baby.
Infant Screening
Within 48 hours of birth, all babies are screened for 40 inborn errors of metabolism — genetic defects that interfere with their ability to process substances like carbohydrates, proteins, and fats. Newborns with positive screening test results for these inherited metabolic disorders are referred to our Inherited Metabolic Disease Specialty Center for additional testing, clinical follow-up, and care if the diagnosis of a metabolic disorder is confirmed.
Our Approach to Care
Holistic and Comprehensive Care
At NewYork-Presbyterian, we recognize that every patient with a metabolic disorder has a unique combination of symptoms, circumstances, and needs. Our metabolic disorders team takes a holistic approach to care that considers the entire patient, including his or her physical, emotional, and social factors. We strive to partner with patients and their parents in shared decision-making, empowering them with knowledge, support, and the most effective treatment options to address symptoms and improve their quality of life.
A Multidisciplinary Team Approach
Your child's healthcare team includes pediatric neurologists, genetics experts, registered dietitians, nurses, child life specialists, social workers, and any other professionals needed to provide care, all in one location.
Because we are part of a world-class medical center, we can centralize care for our patients and connect our patients to providers in more than 100 specialties and subspecialties. When the time comes, we can provide the support patients and their families need to ensure a smooth transition from pediatric to adult care.
Education and Guidance
The care of patients with metabolic disorders can be complex. We have a dedicated educational program for your child and your family to teach you how to monitor your child, maintain an appropriate diet, know when to call for help, and understand what to do for your child in times of illness or in case of an emergency.
Continuity of Care Throughout the Lifespan of the Child
There is a growing recognition that pediatric patients with chronic conditions need to receive continuous care by experienced and familiar physicians as they age beyond their childhood years. At NewYork-Presbyterian, the pediatric neurology team takes a multidisciplinary approach that focuses on the whole child and offers them the best opportunity to enjoy a normal transition from childhood to adulthood.
Children who have a lifelong need for specialized care, such as those with inherited metabolic disorders, are embraced by our care teams. We understand the continuous needs of their patients regardless of age and are vested in making certain that the transition from childhood to adulthood is simplified by not needing to change care teams. Our teams work with children through their adolescence, teen years, and early adulthood to help them understand their responsibility for their health and achieve their personal goals at every stage.
When it is time, we help our patients with neuro-metabolic disorders seamlessly transition to one of our adult physicians in the NewYork-Presbyterian Neurology & Neurosurgery program.
How We Treat Metabolic Disorders
If your child has a diagnosis of a metabolic disorder, our multidisciplinary team of specialists provide treatment specific to each patient's metabolic condition. This may include dietary management with a metabolic nutritionist, enzyme replacement therapy and, in advanced cases, transplantation for bone marrow, liver, kidney or heart.
Our program offers enrollment in cutting–edge clinical trials and research studies for many of these rare disorders.
Genetic counseling may be recommended to provide information on the recurrences of the metabolic disorder and any available testing.
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