title: Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.
abstract: 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 theGLDCgene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; 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 thePCCBgene: c.49C>A; p.Leu17Met. The patient was also treated with natural protein restriction, carnitine, biotin, and thiamine and had subjective and biochemical improvement.
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Paul S
authors.initials: PS
authors.lastname: Kruszka
authors.affiliation: Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.
authors.forename: Brian
authors.initials: B
authors.lastname: Kirmse
authors.affiliation: Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.
authors.forename: Dina J
authors.initials: DJ
authors.lastname: Zand
authors.affiliation: Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.
authors.forename: Kristina
authors.initials: K
authors.lastname: Cusmano-Ozog
authors.affiliation: Section of Clinical Genetics and Metabolism, University of Colorado, Denver, CO, USA.
authors.forename: Elaine
authors.initials: E
authors.lastname: Spector
authors.affiliation: Section of Clinical Genetics and Metabolism, University of Colorado, Denver, CO, USA.
authors.forename: Johan L
authors.initials: JL
authors.lastname: Van Hove
authors.affiliation: Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Chapman
keywords: Non-ketotic hyperglycinemia; Propionic acidemia