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Dr. Raymond Y. Wang, Pediatric Metabolic Disorders

Raymond Wang, M.D. is the director of multidisciplinary lysosomal storage disorder program at CHOC Children’s and a board certified clinical geneticist and biochemical genetics specialist. Dr. Wang attended Stanford University where he was a member of the Phi Beta Kappa honors society and graduated with a bachelor’s degree with Honors and Distinction in Biological Sciences. He earned his medical degree from the University of California, Los Angeles (UCLA) where he was a member of the Alpha Omega Alpha honors society. He completed his internship and residency in medical genetics and pediatrics at Cedars-Sinai Medical Center where he also attended the center’s medical genetics training program. He served his fellowship in biochemical genetics at the UCLA Intercampus.

In 2006, Dr. Wang received the American College of Medical Genetics and Genzyme Fellowship in Biochemical Genetics Award. In the same year, he also received the Cedars-Sinai Medical Center’s Paul Rubenstein Prize for Excellence in Resident Research.

Clinical Interests

Mucopolysaccharidosis (MPS)

Research Focus

Lysosomal storage disorders


CHOC Children’s Clinic
1201 W. La Veta Ave. Building: CHOC Clinic
Orange, CA 92868
phone: 888-770-2462
fax: 855-246-2329

CHOC Children’s Health Center in Corona
854 Magnolia Ave. 101
Corona, CA 92879


  • Medical School
    UCLA School of Medicine, Los Angeles, CA
  • Medical Genetics/Pediatrics Residency
    Cedars-Sinai Medical Center, Los Angeles, CA
  • Biochemical Genetics Fellowship
    Cedars-Sinai Medical Center, Los Angeles, CA

Academic Appointments

  • Assistant Clinical Professor, Pediatrics
    University of California, Irvine School of Medicine
  • Clinical teaching faculty, Pediatrics
    UCLA Intercampus Genetics Program

Administrative Appointments

  • Director, Multidisciplinary Lysosomal Storage Disorder Program, CHOC Children’s
  • Metabolic Disorders, CHOC Children’s Specialists

Lectures and Presentations

Carotid Intima-Media Thickness Is Increased In Patients With Mucopolysaccharidoses Types I, II, And VI And Is Correlated With Arterial Stiffness

Intra-articular rhIDU administration in the canine model of MPS I is safe, well-tolerated, and reduces both joint tissue GAG storage and macrophage infiltration

Professional Organizations

  • American Society, Human Genetics
  • Society, Inherited Metabolic Disease
  • Society, Study of Inborn Errors of Metabolism


Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, et al. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation. Hum Mut. 2012. Epub 2013/01/03. doi: 10.1002/humu.22257.

Vite CH, Nestrasil I, Mlikotic A, Jens JK, Snella E, Gross W, Shapiro EG, Kovac V, Provenzale J, Chen S, Le SQ, Kan SH, Banakar S, Wang RY, Haskins M, Ellinwood NM, Dickson PI. Brain Magnetic Resonance Imaging Findings in Canine Mucopolysaccharidosis type I and Response to Therapy. Accepted for publication: Comparative Medicine 2012

Wang RY, Chang RC, Sowa ME, Chang AC, Abdenur JE. Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass for the Starnes procedure. Accepted for publication: World J Pediatr 2012

Prater SN, Banugaria SG, Dearmey SM, Botha EG, Stege EM, Case LE, Jones HM, Phornphutkul C, Wang RY, Young SP, Kishnani PS. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012 Apr 26 doi:10.1038/gim.2012.44

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan J, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab 2012;106:55-61.

Williams TB, Daniels M, Puthenveetil G, Chang RC, Wang RY, Abdenur JE. Neonatal diabetes and adrenal insufficiency as early manifestations of Pearson Syndrome. Mol Genet Metab 2012;106:104-107.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Krabbe disease: clinical, biochemical, and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. Mol Genet Metab 2012:105:126-131.

Wang RY, Covault KK, Halcrow EM, Gardner AJ, Cao X, Newbomb RL, Dauben RD, Chang AC. Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. Mol Genet Metab 2011:104;592-596.

Wang RY, Bodamer OA, Watson MS, Wilcox WR; on behalf of the ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011; 13: 457-484.

Reinstein E, Wang RY, Zhan L, Rimoin DL, Wilcox WR. Ehlers “Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree. Am J Med Genet Part A 2011; 155: 742 “747.

Sass JO, Fischer K, Wang RY, Christensen E, Scholl-Bürgi S, Chang R, Kapelari K, Walter M. D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). Hum Mutat. 2010; 31: 1280-1285.

Puckett R, Lorey F, Rinaldo P, Lipson M, Matern D, Sowa M, Levine F, Chang R, Wang RY, Abdenur JE. Maple syrup urine disease: further evidence that variant forms cannot be detected by newborn screening. Mol Genet Metab. 2010; 100: 136-142.

Wang RY, Cambray-Forker EJ, Ohanian K, Karlin DS, Covault KK, Schwartz PH, Abdenur JE. Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol Genet Metab. 2009; 98: 406-411.

Research Bio

Dr. Wang’s research concentrates upon a category of inherited conditions called lysosomal storage disorders, which result in severe, progressive multisystemic symptoms from ongoing accumulation of undegraded substrates within the lysosomal compartment of the cell. Previously untreatable and leading to early death, treatments to reduce the substrate storage such as hematopoietic stem cell transplantation and / or intravenous enzyme replacement therapy have beneficially changed the natural history of some lysosomal storage disorders.

As long-term survivors with storage disorders are becoming adolescents and young adults, progressive symptoms in other tissues resistant to these treatments have been recognized. Dr. Wang’s research focuses upon the development of treatment for these refractory organ systems, and upon the refinement of novel, non-invasive biomarkers to follow treatment progress and predict future outcomes. He has recently submitted a Mentored Clinical Scientist Development Award application to the National Institutes of Health to study the Natural History and Mechanisms of Cardiovascular Disease in Mucopolysaccharidosis Type I, and is studying the utility of carotid intima-media thickness as a predictor of cardiovascular dysfunction and disease in patients with mucopolysaccharidosis type III (supported by CHOC Children’s) and type IV (supported by the MPS Society ~ ). He is also studying the safety and efficacy of intra-articular alpha-iduronidase injections for joint disease in mucopolysaccharidosis type I.

  • Raymond Y Wang MD
    • Appointments:
    • Office: 714-509-8852
    • Specialty: Metabolic Disorders
    • Board Certified: Clinical Genetics, Clinical and Biochemical Genetics
    • On Staff at: CHOC Children's Hospital

Learn more about Dr. Wang, Metabolics

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UC Irvine

CHOC Children's is affiliated with the UC Irvine School of Medicine