Case Report Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy Paul S. Kruszka a , Brian Kirmse b , Dina J. Zand b , Kristina Cusmano-Ozog b , Elaine Spector c , Johan L. Van Hove c , Kimberly A. Chapman b, ⁎ a National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA b Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA c Section of Clinical Genetics and Metabolism, University of Colorado, Denver, CO, USA article info abstract Article history: Received 3 March 2014 Received in revised form 17 April 2014 Accepted 18 April 2014 Available online 22 May 2014 This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819GNA; p.G607S). At 8 years of age after having been placed on ketogenic diet, he became lethargic and had severe metabolic acidosis with ketonuria. Urine organic acid analysis and plasma acylcarnitine profile were consistent with propionic acidemia. He was found to have an apparently homozygous mutation in the PCCB gene: c.49CNA; p.Leu17Met. The patient was also treated with natural protein restriction, carnitine, biotin, and thiamine and had subjective and biochemical improvement. © 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/). Keywords: Propionic acidemia Non-ketotic hyperglycinemia 1. Introduction Despite our effort to classify all of an individual's findings under one genetic or metabolic diagnosis, individuals can have more than one disorder. Whole exome studies have illustrated the possibility of more than one diagnosis within a single complex patient. However, how often do we think about more than one Molecular Genetics and Metabolism Reports 1 (2014) 237–240 ⁎ Corresponding author at: Division of Genetics and Metabolism, Children's National Health System, 111 Michigan Ave NW, Suite 1950, Washington, DC 20010, USA. Fax: +1 202 476 5650. E-mail addresses: Paul.kruszka@nih.gov (P.S. Kruszka), Bkirmse@childrensnational.org (B. Kirmse), dzand@childrensnational.org (D.J. Zand), kcozog@childrensnational.org (K. Cusmano-Ozog), Elaine.Spector@ucdenver.edu (E. Spector), Johan.Vanhove@ucdenver.edu (J.L. Van Hove), kchapman@childrensnational.org (K.A. Chapman) Contents lists available at ScienceDirect Molecular Genetics and Metabolism Reports journal homepage: http://www.journals.elsevier.com/ molecular-genetics-and-metabolism-reports/ http://dx.doi.org/10.1016/j.ymgmr.2014.04.007 2214-4269/© 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/).