Metabolic Disorders

A History of Expertise in Pediatric Metabolic Disorders

Inborn errors of metabolism are a group of genetic diseases where an inherited defect (usually a missing or inadequate enzyme that breaks down or builds chemicals in the body) affects the nervous system. If your child has one of these metabolic disorders, the specialists at NewYork-Presbyterian/Morgan Stanley Children's Hospital offer compassionate care and consummate expertise. Your child benefits from:

  • A Team Approach: Your child's healthcare team includes pediatric neurologists, genetics experts, dietitians, nurses, child life specialists, and any other professionals needed to provide care, all in one location.
  • State Designation: NewYork-Presbyterian/Morgan Stanley Children's Hospital is a New York State-designated Inherited Metabolic Disease Specialty Center - one of only a handful in the state - and a Newborn Screening Center. Newborns with positive screening test results for inherited metabolic disorders are referred to our center for additional testing and clinical follow-up, and care if the diagnosis of a metabolic disorder is confirmed.
  • A History of Excellence: Tay-Sachs disease was first described by Bernard Sachs, MD, who established the Child Neurology Division here in 1934. Many other disorders - including glucose transporter deficiency, co-enzyme Q-10 (CoQ10) deficiency, and some forms of congenital disorders of glycosylation (CDG) - were first described by our physicians and continue to be studied here. Our physicians have years of experience and remain at the forefront of knowledge and patient care.
  • Comprehensive Care for a Variety of Metabolic Disorders: We treat all types of metabolic disorders affecting the nervous system, including mitochondrial disease, glucose transporter deficiency, lysosomal storage diseases, CDG, neurotransmitter deficiencies, and CoQ10 deficiency. Your child's care may begin before he or she is even born, with expertise provided by our prenatal specialists. Treatment may include guidance by a dietitian with expertise in metabolic disorders and/or enzyme replacement therapy. Genetic counseling is available for family members. Inpatient, outpatient, and emergency care are available for all patients.
  • 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.
  • A Commitment to Research: Our investigators are studying metabolic diseases to glean insights which may someday lead to better patient care. For example, we're assessing a novel treatment for lysosomal storage diseases through an international study of the drug miglustat with a center in the United Kingdom for the treatment of Niemann-Pick disease, type C. Your child may have the opportunity to participate in a clinical trial of a promising new therapy.
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