Dr. Richard C. Chang, Metabolic Disorders

Dr. Richard C. Chang, Metabolic Disorders
  • Richard C Chang MD
  • Appointments:
    888-770-2462
  • Office: 714-509-8852
  • Specialty: Metabolic Disorders
  • Board Certified: Medical Biochemical Genetics, Clinical Informatics
  • Additional Languages: Mandarin, Taiwanese

Dr. Richard C. Chang has been serving as the Assistant Division Chief of Metabolic Disorders at CHOC Children’s since August 2015. He is certified by the American College of Medical Genetics & Genomics and the American Board of Preventive Medicine.

Dr. Chang’s expertise lies in the intricate realm of inborn errors of metabolism, where he specializes in the patient’s presentation, diagnosis, and management. With a dedicated focus on advancing medical treatment, Dr. Chang actively participates in clinical trials aimed at investigating rare and ultra-rare genetic conditions.

In addition to his clinical role, Dr. Chang serves as a Clinical Informaticist at CHOC Children’s Hospital, where he contributes to the assessment, design, and implementation of enterprise solutions, system interfaces, data analytics, and data science as it relates to patient care; particularly within the Cerner-based electronic health records system.

Furthermore, Dr. Chang holds the position of Associate Clinical Professor at the University of California, Irvine, School of Medicine, Department of Pediatrics. where he imparts his passion and knowledge to physicians, nurses, and other allied health practitioners in training.

Richard C Chang MD is on staff at CHOC Hospital in Orange .

More About Dr. Chang

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 MetabolicCRC@choc.org.

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

See more.

Health Topics

Preemie nestled in adult hands
Parents and Preemies

A premature baby or preemie is born before 37 weeks of gestation. They often require hospitalization. The best way for it to grow is to have the mother's milk.

Locations

Map of CHOC Specialty Care Clinic
CHOC Specialty Care Clinic

CHOC Clinic Building
1201 W. La Veta Ave.
Orange, CA 92868

Map of CHOC Health Center, Corona
CHOC Health Center, Corona

854 Magnolia Ave
#101
Corona, CA 92879