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Pediatric Metabolic Disorder Program

The Pediatric Metabolic Disorder Program at Mass General Brigham for Children provides a full range of consultative, diagnostic, and management services for pediatric and adult patients with inherited metabolic disorders.
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617-726-1561
6177261561
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About the program

The Pediatric Metabolic Disorders Program provides a full range of consultative, diagnostic, and management services for pediatric and adult patients with inherited metabolic disorders. Diagnostic testing is available for patients detected by newborn screening, as well as those who display symptoms in adolescence or maturity.

Part of Mass General Brigham for Children

Specialty care in a world-renowned academic medical center

Our clinical team of physicians, nurses and dieticians provides families with diagnosis, treatment, counseling, and follow-up care in a supportive environment. Our state-of-the-art laboratories and participation in current research ensures our patients the latest testing and treatment options.

A comprehensive range of services

Our physicians are board-certified in clinical and biochemical genetics and have extensive experience treating the comprehensive range of metabolic disorders including:

  • Arginase deficiency
  • Argininosuccinic aciduria
  • Biotinidase deficiency
  • Carnitine deficiency
  • Citrullinemia
  • Carnitine Palmitoyltransferase deficiency
  • Cystathioninuria
  • Cystinuria
  • Fatty Acid Oxidation defects
  • Fumarase Deficiency
  • Galactosemia
  • Glutaric acidemia
  • Glycine Encephalopathy / Non-ketotic hyperglycinemia
  • Gyrate Atrophy / Ornithine Aminotransferase Deficiency
  • Homocystinuria caused by Cystathionine beta-Synthase Deficiency
  • Hyperammonemic Syndromes
  • Hyperlysinemia
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
  • Isovaleric Acidemia
  • Ketothiolase deficiency
  • Long chain 3-Hydroxyacyl CoA Dehydrogenase (LCHAD) deficiency
  • Lysinuric Protein Intolerance
  • Maple Syrup Urine Disease (MSUD)
  • Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency
  • 3-Methylcrotonyl-CoA Carboxylase deficiency
  • Methylmalonic Acidemia
  • Organic acidemias
  • Ornithine Transcarbamylase deficiency
  • PKU / Phenylalanine Hydroxylase deficiency
  • Propionic Acidemia
  • Short chain acyl-CoA Dehydrogenase (SCAD) deficiency
  • Sulfocysteinuria / Sulfite Oxidase deficiency / Molybdenum Cofactor deficiency
  • Tyrosinemia
  • Urea Cycle disorders

Services and resources

  • Abnormal Newborn Screening Test
  • Newborn screening follow-up
  • Pediatric, adolescent, and adult genetics
  • Comprehensive evaluation for possible metabolic disease
  • Biochemical genetic diagnostic testing and monitoring
  • Nutritional treatment / dietary adjustment
  • Genetic counseling
  • Specialty referral
  • Online specialty consultations
  • Interpreter services are available
  • Social work is available
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Conditions and treatments

Our specialists

No matter what disease or condition you have, Mass General Brigham has specialists near you who can help.
An illustration of a care team.
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617-726-1561
6177261561
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Specialists

  • Mass General Brigham for Children

    Mass General Brigham for Children provides care for newborns to teens—from checkups to specialty care—for families in the Boston area and internationally. Learn more about our services.

  • Pediatric Genetics Program

    The Medical Genetics Program at Mass General Brigham for Children specializes in the evaluation and care of patients of all ages who may have health problems with a hereditary, genetic, or metabolic basis.

  • Pediatric Bone and Mineral Metabolism Disorders Program

    Our program specializes in the treatment of low bone density, osteoporosis, vitamin D deficiency, rickets and osteomalacia and other disorders affecting bone health and mineral metabolism in infants, children and young adults.

  • Pediatric Endocrine Program and Diabetes

    Pediatric Endocrinology and Diabetes Center at Mass General Brigham for Children is an international referral center for the management of pediatric diabetes and endocrine disorders in children and adolescents.

  • Pediatric Diabetes Program

    The Pediatric Diabetes Program provides comprehensive care to children and adolescents with both type 1 (juvenile-onset; insulin-dependent) and type 2 (adult-onset; non-insulin-dependent) diabetes mellitus.

  • Turner Syndrome Program

    The Turner Syndrome Program at Mass General Brigham for Children provides a medical home for people of all ages with Turner syndrome.

  • Klinefelter Syndrome Program (Pediatric)

    We aim to provide high-quality, coordinated care to individuals of all ages living with Klinefelter syndrome.

  • Pediatric Gastroenterology and Nutrition

    The Pediatric Gastroenterology, Hepatology and Nutrition Program provides multidisciplinary care for children with gastrointestinal, liver, pancreatic and nutritional disorders.

  • Pediatric Feeding and Nutrition

    We offer compassionate care and the latest treatments for children of all ages who have feeding and swallowing disorders (dysphagia). Learn more.

  • Pediatric Liver and Biliary Disease Center

    The Pediatric Liver and Biliary Disease Center at Mass General Brigham for Children diagnoses and treats infants, children, and adolescents with diverse hepatic, biliary, and pancreatic disorders.

  • Neonatal Hepatology Program

    The Neonatal Hepatology Program draws on the expertise of several specialties, including Neonatology, Pediatric Hepatology, Pediatric Nutrition, Pediatric Surgery, Medical Genetics and Metabolism and Pediatric Imaging.

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Contact the Pediatric Metabolic Disorder Program

Call us to speak with a team member who can help you understand your options and guide you to the care that is right for you. With locations throughout New England and support for patients traveling from outside the United States, we make it easier to access coordinated, expert care.
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617-726-1561
6177261561
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International Patient Services

Contact information for international patients

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Contact