Medical Genetics and Genomics

Program for Inherited Metabolic Diseases

The Inherited Metabolic Diseases program focuses on delivering advanced clinical and diagnostic services for children and adults affected by the inborn of metabolism.  We provide complete diagnostic evaluations, testing, interpretation of test results, and long-term medical and nutritional management.

We are an approved New York State Newborn Screening Referral Center for inherited metabolic diseases. As one of the largest Newborn Screening Referral Centers in the United States, we also hold the distinction of being the leading referral center in our region for the evaluation of those suspected of having inborn errors of metabolism. We are one of the largest in the country dedicated to the understanding, prevention, treatment, and cure of genetic diseases and birth defects, committed to providing outstanding medical care for patients with inherited metabolic diseases as well as researching and developing new, improved therapies for these conditions.

Who Should be Seen for a Metabolic Evaluation?

The majority of our patients are referred to us through the New York State Newborn Screening Program. The other percentage of patients is referred to us due to specific signs or symptoms that suggest an inherited metabolic disease. Symptoms of Inherited Metabolic Diseases can include a failure to thrive, seizures and other neurologic disorders, developmental delays, abnormal blood tests and hypotonia (abnormal loss of muscle tone).

About Newborn Screening

All newborn babies are screened shortly after birth to be tested for diseases that can be harmful or life-threatening if they are not diagnosed and treated as early as possible.

We conduct newborn screening tests when your baby is about a day old. We take a few drops of blood from your baby’s heel and send the sample to the state lab. These samples are labeled with your baby’s name, your pediatrician’s name, and your family’s contact information so you can be notified if the screen is positive.

The state lab tests your child’s sample for over 40 diseases that may affect your baby’s health. If your child’s test appears abnormal, the state will notify the nearest Newborn Screening Referral Center. Mount Sinai is the nearest referral center for inherited metabolic diseases in the New York tristate area.

We understand that receiving a phone call about your newborn baby’s health is frightening. Please remember that additional screening must be repeated at Mount Sinai Hospital to confirm whether or not your baby has a metabolic disease.

There are instances where the baby’s newborn screen test is only slightly abnormal. When that happens, the state newborn screening lab will request a second newborn screening test. Should the secondary tests’ results remain abnormal, the baby will then be referred to Mount Sinai Hospital.

Disorders that are treated in the PIMD at Mount Sinai include:

  • Argininemia
  • Argininosuccinic Acid Lyase deficiency
  • Beta ketothiolase deficiency
  • Biotinidase deficiency
  • Carnitine cycle disorders
  • Carbamylphosphate synthetase deficiency (CPS-1)
  • Carnitine palmitoyl transferase 1 deficiency (CPT-1)
  • Carnitine palmitoyl transferase 2 deficiency (CPT2)
  • Carnitine translocase deficiency
  • Citrullinemia
  • Cobalamin disorders (cbl a, b, c, etc.)
  • Developmental delay
  • 2,4 Dienyl CoA reductase deficiency
  • Failure to thrive
  • Fatty Acid Oxidation defects
  • Fucosidosis
  • Galactosemia
  • Glutaric acidemia types 1 and 2
  • Glutathione synthetase deficiency
  • Glycogen storage diseases
  • Holocarboxylase synthetase deficiency
  • Homocystinuria
  • Hyperammonemia, homocitrullinemia, hyperornithinemia syndrome (HHH)
  • Hypermethioninemia
  • Hyperprolinemia
  • Hypoglycemia
  • Isovaleric acidemia
  • Krabbe disease
  • Long chain hydroxyl acyl CoA dehydrogenase deficiency (LCHAD)
  • Lysosomal Storage Diseases
  • Maple syrup urine disease
  • Malonic aciduria
  • Medium chain acyl CoA dehydrogenase deficiency (MCAD)
  • Metabolic acidosis
  • 3-Methylcrotonyl CoA carboxylase deficiency
  • Methylene tetrahydrofolate reductase deficiency (MTHFR)
  • Methylmalonic acidemia
  • Mitochondrial diseases
  • Mucopolysaccharidoses
  • Multiple Acyl CoA dehydrogenase deficiency
  • Niemann-Pick disease types A, B, and C
  • Organic acidemias
  • Ornithine carbamylase deficiency
  • Phenylketonuria
  • Pompe disease
  • Propionic acidemia
  • Seizure disorders
  • Short chain acyl CoA dehydrogenase deficiency (SCAD)
  • Tay Sachs Disease
  • Tetrahydrobiopterin deficiencies
  • Trifunctional protein deficiency
  • Trimethylaminuria
  • Tyrosinemia
  • Urea cycle defects
  • Very long chain acyl CoA dehydrogenase deficiency (VLCAD)

Our doctors accept most major commercial insurance plans. Testing will be coordinated, as far as possible, through insurance plans.