Metabolic Disorders

Yawkey Center for Outpatient Care, Suite 6C
Phone: 617-726-3884 | Fax: 617-726-5739
Genetics Fellow on Call: 617-726-2241, pager: 3-6582

The Metabolic Disorders Unit at MassGeneral Hospital for Children 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.

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
• Argininosuccinicaciduria
• 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
• Methylenetetrahydrofolate Reductase (MTHFR) 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

Program and Services

• 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
• Specialty Referral
• Online Specialty Consultations
• Interpreter Services are available
• Social Services are available

At MassGeneral Hospital for Children, we know that the time of your child’s diagnosis and treatment is a very stressful one and we strive to provide an open, welcoming environment. We believe that no one knows a child as well as the parent does: parents, along with primary care providers, become our partners in a child's care and have an active voice in all treatment plans.

How to Contact Us

Office /Appointments 617-726-3884 Fax 617-726-5739 (please note that clinical appointments are only available Thursday mornings)

Genetics Fellow On-Call MGH: 617-726-2241 pager 3-6582
Yawkey Center for Outpatient Care, YAW-6-6C, 32 Fruit St, Boston, MA 02114