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Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Vieira, Päivi; Cameron, Jessie; Rahikkala, Elisa; Keski-Filppula, Riikka; Zhang, Lin-Hua; Santra, Saikat; Matthews, Allison; Myllynen, Päivi; Nuutinen, Matti; Moilanen, Jukka S; Rodenburg, Richard J; Rolfs, Arndt; Uusimaa, Johanna; van Karnebeek, Clara D M.
Affiliation
  • Vieira P; PEDEGO Research Unit, University of Oulu, Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland. Electronic address: paivi.vieira@fimnet.fi.
  • Cameron J; Genetics and Genome Biology, Peter Gilgan Center for Research and Learning, 686 Bay Street, Toronto, Ontario M5G0A4, Canada.
  • Rahikkala E; PEDEGO Research Unit, Clinical Genetics, University of Oulu, Medical Research Center Oulu, Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Keski-Filppula R; PEDEGO Research Unit, Clinical Genetics, University of Oulu, Medical Research Center Oulu, Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Zhang LH; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, United Kingdom.
  • Matthews A; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.
  • Myllynen P; Northern Finland Laboratory Centre Nordlab, Oulu University Hospital, Oulu, Finland.
  • Nuutinen M; PEDEGO Research Unit, University of Oulu, Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland.
  • Moilanen JS; PEDEGO Research Unit, Clinical Genetics, University of Oulu, Medical Research Center Oulu, Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rolfs A; Centogene AG, The Rare Disease Company, Rostock, Germany; Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Germany.
  • Uusimaa J; PEDEGO Research Unit, University of Oulu, Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland; Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Finland.
  • van Karnebeek CDM; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
Mol Genet Metab ; 120(4): 337-341, 2017 04.
Article in En | MEDLINE | ID: mdl-28216384
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoenolpyruvate Carboxykinase (GTP) / Urine / Carbohydrate Metabolism, Inborn Errors / Mutation, Missense / Intracellular Signaling Peptides and Proteins / Hypoglycemia / Liver / Liver Diseases Limits: Animals / Child / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoenolpyruvate Carboxykinase (GTP) / Urine / Carbohydrate Metabolism, Inborn Errors / Mutation, Missense / Intracellular Signaling Peptides and Proteins / Hypoglycemia / Liver / Liver Diseases Limits: Animals / Child / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2017 Document type: Article Country of publication: