Metabolic Disorders

Overview

The 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. 

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
• 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
• Genetic Counseling
• Specialty Referral
• Online Specialty Consultations
• Interpreter Services are available
• Social Work is available

Patient Resources

• Who to call with medical concerns (PDF)