Metabolic Disorders Clinic

The Cedars-Sinai Medical Genetics Metabolic Disorders Clinic offers comprehensive services to children and adults with known or suspected disorders of metabolism. These services include diagnosis, genetic testing, genetic counseling, dietary management, and treatment. In addition to a medical geneticist and genetic counselor, our team includes a dietician and social worker.

The Metabolic clinic is a certified CCS Metabolic Treatment Center and a follow-up center for the California Newborn Screening Program.

Patients referred to metabolic clinic include those with an abnormal newborn screen, abnormal biochemical testing, diagnosis of a known metabolic condition, family history of a metabolic condition, and/or suspicion of a metabolic disorder.

Metabolic diseases and conditions treated include:

  • Phenylketonuria and other amino acid disorders
  • Glactosemia
  • Fatty Acid Oxidation Defects (Carnitine Transporter Deficiency, MCAD, VLCAD, LCHAD, SCAD)
  • Lysosomal Storage Disorders 
  • Organic Acidemias
  • Urea Cycle Disorders
  • Peroxisomal disorders
  • Congenital disorders of glycosylation
  • Mitochondrial Diseases

Comprehensive Services

Due to the complexity of metabolic disorders, healthcare by medical experts in the field is vital for patients and their families. Comprehensive services available at Cedars-Sinai's Metabolic Disorders Clinic include:

  • Consultation and evaluation
  • Genetic counseling
  • Diagnostic testing
  • Diet management
  • Treatment
  • Interaction with and education of referring physicians in providing life-long care
  • Patient education
  • Research updates and opportunities for participation in clinical trials

The Metabolic Disorders Clinic is directed by Dr. William Wilcox. The team includes Claudia Hernandez, M.S. (Genetic Counselor and Coordinator), Marcy Polsky (Pediatric Social Worker), and Pirayeh Pedarsani (dietician).  

For more information

For more information about the Metabolic Disorders Clinic at Cedars-Sinai or to make a referral or an appointment, please contact:

Medical Genetics Metabolic Clinic

Cedars-Sinai Medical Center
8700 Beverly Blvd. PACT 400
Los Angeles, CA 90048
Phone: 1-800-CEDARS (1-800-233-2771)
Alt Phone: (310) 423-9914
Fax: (310) 423-0620

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