Dr. Richard C. Chang, Metabolic Disorders

Dr. Chang is a member of the CHOC Specialists Metabolic Disorders division and is board certified in Medical Biochemical Genetics. Dr. Chang completed his residency training at CHOC Hospital in Orange and attended medical school at the University of Iowa School of Medicine.

Dr. Chang is the assistant division chief of Metabolic Disorders at CHOC. His interests are in the presentation, diagnosis, and treatment of inborn errors of metabolism. Dr. Chang serves as a physician informaticist at CHOC Hospital where he serves as a consultant for electronic health record implementation to enhance health care delivery. Dr. Chang is an Assistant Clinical Professor with the University of California, Irvine School of Medicine.

Education

• Fellowship, 2007-2010, Medical Biochemical Genetics by experience pathway CHOC PSF Division of Metabolic Disorders
• Residency, 2001-2004 Children’s Hospital of Orange County – Pediatrics
• Doctor of Medicine, 1997–2001 University of Iowa College of Medicine
• Bachelor of Science, 1991-1995, Biochemistry & Cell Biology, Minor: Psychology University of California at San Diego

Current Appointments

• Associate Clinical Professor, Department of Pediatrics University of California, Irvine
• Assistant Division Chief, Division of Metabolic Disorders Children’s Hospital of Orange County
• Physician Informaticist, Information Systems Children’s Hospital of Orange County
• Staff Physician Consultant – Genetics St. Joseph Hospital

Clinical Trial

We currently have studies related to a range of rare diseases and medical conditions, including phenylketonuria (PKU), mucopolysaccharidosis (MPS), mitochondrial disease, Fabry disease, Niemann-Pick Type C1 (NPC1) disease, Morquio A syndrome, piruvate carboxylase deficiency (PCD), pyruvate dehydrogenase complex deficiency (PDCD), and arginase 1 deficiency. These trials investigate various treatments, including enzyme replacement therapy, gene therapy, gene editing, and investigational drugs. For more information about these clinical trials, please email [email protected].

Areas of Expertise

• Biochemical Genetics: Specializing in the presentation, diagnosis, and treatment of inborn errors of metabolism.
• Medical Informatics: Dedicated to enhancing healthcare delivery, promoting interoperability, and providing clinical decision support through clinical medical informatics.
• Clinical Research: Serving as Principal Investigator for several studies focused on evaluating the effectiveness of novel treatments in preventing neuropsychiatric symptoms in phenylketonuria.

Professional Organizations

• American Academy of Pediatrics
• American Medical Informatics Association
• Orange County Pediatric Society
• Society of Inborn Metabolic Disorders

Publications

Bier et al, “Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females” Molecular Genetics and Metabolism, Vol 141, Feb 2024 PMID: 38367583

Flex et al, “Dominantly acting KIF5B variants with pleiotropic cellular consequences causes variable clinical phenotype” Human Molecular Genetics, Vol 32, Issue 3, Jan 2023 PMID: 36018820

Huang et al, “The biochemical profie and dietary management in S-adenosylhomocysteine hydrolase deficiency” Molecular Genetics and Metabolism Reports, Vol 22, 2022 PMID: 35789945

Melland et al, “Expanding the genotype and phenotype spectrum of STY1-associated neurodevelopmental disorder” Genetics in Medicine, Vol 24, Issue 2, Jan 2022 PMID: 35101335

Boyer et al, “Continuation of pegvaliase treatment during pregnancy: A case report” Molecular Genetics and Metabolism Reports Vol.26 January 2021, 100713

Abdenur et al, “Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet” Molecular Genetics and Metabolism Reports Vol. 24 September 2020, 100617

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