Inherited metabolic disorders are a group of genetic conditions, many of which affect the nervous system. If your child has one of these disorders, the inherited metabolic disorder specialists at NewYork-Presbyterian Morgan Stanley Children's Hospital offer compassionate care and consummate expertise. Your child's healthcare team includes pediatric neurologists, genetics experts, dietitians, nurses, child life specialists, and other professionals who provide comprehensive care, all in one location. We are dedicated to providing individualized treatment that enables children of all ages to reach their fullest potential and live their best lives.

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.

What are Inherited Metabolic Disorders?

Inherited metabolic disorders, also known as inborn errors of metabolism, are usually due to defects of single genes that code for enzymes that break down and build up chemicals in the body. In most of these disorders, problems arise due to an accumulation of chemicals that are toxic or interfere with normal body functions or lead to a deficiency in essential chemicals.

Inherited metabolic disorders can affect patients of any age, from newborns to adults. Since the introduction of expanded newborn screening for inherited metabolic disorders in the 1990s, the number of patients diagnosed with these conditions has dramatically increased.

About Our Program

At NewYork-Presbyterian Morgan Stanley Children’s Hospital, we provide comprehensive care designed to diagnose, manage and counsel patients with inherited metabolic disorders and their families. For children with neuro-metabolic disorders, our experienced pediatric neurologists help these children and their parents have the opportunity to build healthy lives, improve their quality of life, and minimize the burden of their disease.

A History of Excellence in Neuro-Metabolic Disorders

At NewYork-Presbyterian Morgan Stanley Children’s Hospital, our pediatric neurologists have years of experience and remain at the forefront of knowledge and patient care for metabolic disorders affecting the nervous system. For instance, Tay-Sachs disease was first described by Bernard Sachs, MD, who established the Child Neurology Division at NewYork-Presbyterian/Columbia in 1934. Many other neuro-metabolic 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.

Comprehensive Care for a Variety of Neuro-Metabolic Disorders

We treat all types of metabolic disorders affecting the nervous system, including mitochondrial disease, glucose transporter deficiency, lysosomal storage diseases, congenital disorders of glycosylation (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 or enzyme replacement therapy. Genetic counseling is available for family members. Inpatient, outpatient, and emergency care are available for all patients.

Why Choose Us

Designated Specialty Center for Inherited Metabolic Diseases

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.

Multidisciplinary Team Approach

NewYork-Presbyterian’s pediatric neurologists and neurosurgeons are internationally recognized for the diagnosis and treatment of a wide range of neurological diseases and disorders in children.  Their knowledge and clinical expertise across the entire spectrum of pediatric disorders of the brain and spine, coupled with a multidisciplinary team approach, enables them to develop expertise in very rare conditions such as metabolic disorders, movement disorders, cerebrovascular diseases, spasticity, and craniovertebral junction (CVJ) abnormalities.

As physicians affiliated with dedicated children’s hospitals, they collaborate with pediatric specialists in every field of medicine and surgery as needed, including child neurologists and neuroradiologists, anesthesiologists, neuropathology, nurses, child life advocates and social workers specially trained to work with children.

Seamless Access to Resources and Support Services

At NewYork-Presbyterian, patients and families have seamless access to our vast resources, including on-staff neuropsychologists who offer testing and treatments for emotional and cognitive issues that may occur after a brain disorder.  We also have a Parent-to-Parent program that can connect you personally with a parent whose child has been treated for the condition your child has.

Access to Clinical Trials

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.

Contact Us

Call for an Appointment

NewYork-Presbyterian Morgan Stanley Children's Hospital

212-305-1396 Department of Pediatric Neurology