Pediatrics About Us Message from the Chair Diversity, Equity & Inclusion Contact Us Education & Training Residency Programs Fellowship Programs Research Divisional Expertise Faculty Division of Metabolic Disorders Department of Pediatrics Home Research Research: Clinical Departments Pediatrics: Home Pediatrics: Divisional Expertise Pediatrics: Divisional Expertise > Metabolic Disorders A Collaborative Approach The Metabolic Disorders Division is committed to diagnosing and caring for children with inborn metabolic diseases. Our treatment protocols and research are built upon the latest findings in our field, through a collaborative approach combining our expertise with other leading experts throughout the nation. Genetic diseases are becoming increasingly recognized, and early testing, diagnosis and appropriate treatment interventions are critical to prevent complications, physical and intellectual disabilities, and even death in children with inborn metabolic disorders. Clinical Expertise in Metabolic Disorders Our clinical team includes physicians, nurse practitioners, genetic counselors, dietitians, case managers and a social worker. Many clinical and basic research studies are conducted under the Metabolic Rare Disease Program (MRDP) at CHOC. Most treatments involve specific diets and formulas that are devoid of the metabolites that cannot be broken down by metabolic patients, as well as cofactors and enzyme replacement. Clinical presentation of children with inborn metabolic diseases can be variable and nonspecific. Symptoms include failure to thrive, malnutrition, cyclic vomiting/dehydration, developmental delay or regression. Patients are referred to our program with unexplained or persistent: Metabolic acidosis or ketosis Increased lactic acid Hypoglycemia Hyperammonemia Abnormal liver function tests Hypoglycemia Neutropenia/thrombocytopenia Cataracts or corneal opacities Cardiomyopathy Hepatosplenomegaly Intractable seizures Developmental delay or loss of milestones Failure to thrive Patients are sent to us for consultation when common workups based upon any of the symptoms listed above do not lead to a clear diagnosis. Division of Metabolic Disorders Faculty Raymond Yu-Jeang Wang, MD Associate Professor — Division of Genetic and Genomic Medicine, Pediatrics Changrui Xiao, MD Assistant Professor, Neurology Volunteer Faculty Jose E. Abdenur, MD, CHOC Division Chief Richard Chang, MD Cristel Chapel-Crespo, MD