Inborn Errors of Metabolism/Newborn Screen
The Division of Medical Genetics provides care for one of the largest inborn errors of metabolism/newborn screen clinics in California, with more than 200 patients on active follow-up.
Areas of Expertise
Our faculty has particular expertise in the following disorders:
- Lysosomal storage disorders
- Phenylketonuria (PKU)/Tyrosinemia
- Urea cycle disorders/OTC deficiency
- Mitochondrial disorders
- Maple Syrup Urine Disease
- Fatty acid oxidation disorders
- Glycogen storage diseases
- Organic Acidurias/Propionic Acidemia
The Medical Genetics Division is a treatment center for several enzyme replacement therapies in collaboration with the Children’s Hospital Los Angeles Infusion Center and collaborates with the hospital's Bone Marrow Transplantation Program and Liver Transplant Program to offer transplantation as a “curative” therapy for some patients with select inborn errors of Metabolism.
Certified CCS Center
The Division of Medical Genetics serves as a certified California Children’s Services Center (CCS) for metabolic and genetic diseases, which enables any child who is diagnosed with a disease that falls into one of these categories to receive treatment at our hospital as a CCS patient. It is also one of the largest CCS centers in the state for inborn errors of metabolism detected by newborn screening.
Newborn Screening Program
The Division receives more referrals for screen positive results for newborns than any other center in California.