新生児マススクリーニングガイド対象疾患等診療ガイドライン
56/99

6) Leonard JV, et al.:Mitochondrial phosphoenolpyruvatecarboxykinase deficiency. Eur J Pediatr 1991;150:198■199.8) Santra S, et al.:Cytosolic phosphoenolpyruvate car-boxykinase deficiency presenting with acute liver failurefollowing gastroenteritis. Mol Genet Metab 2016;118:21■27.9) Vieira P, et al.:Novel homozygous PCK1 mutation caus-ing cytosolic phosphoenolpyruvate carboxykinase defi-ciency presenting as childhood hypoglycemia, an abnor-mal pattern of urine metabolites and liver dysfunction.Mol Genet Metab 2017;120:337■341.3) Fiser RH, et al.:HEPATIC PHOSPHOENOL PYRU-VATE CARBOXYKINASE(PEPCK)DEFICIENCY■ A NEW CAUSE OF HYPOGLYCEMIA IN CHILD-HOOD. Pediatr Res 1974;8:432. 成人の症例は報告されていないが,長時間の飢餓,アルコール摂取は避けるべきである. 10) Robinson BH. Lactic Acidemia:Disorders of PyruvateCarboxylase and Pyruvate Dehydrogenase. In:Valle DL, et al., eds.:The Online Metabolic and Molecular Basesof Inherited Disease. McGraw Hill;2019.https://ommbid.mhmedical.com/content.aspx? bookid=2709§ionid=225087140(2022年11月閲覧)1) Yang J, et al.:What Is the Metabolic Role of Phosphoe-nolpyruvate Carboxykinase? J Biol Chem 2009;284:27025■27059.2) OʼBrien R, et al.:Identification of a sequence in thePEPCK gene that mediates a negative effect of insulin ontranscription. Science 1990;249:533■537.4) Hommes FA, et al.:Two cases of phosphoenolpyruvatecarboxykinase deficiency. Acta Paediatr 1976;65:233■240.5) Vidnes J, et al.:Gluconeogenesis in infancy and child-hood Ⅲ. Deficiency of the Extramitochondrial Form ofHepatic Phosphoenolpyruvate Carboxykinase in a Case of Persistent Neonatal Hypoglycaemia. Acta Paediatr Scand1976;65:307■312.7) Adams DR, et al.:Three rare diseases in one Sib pair:RAI1, PCK1, GRIN2 B mutations associated withSmith■Magenis Syndrome, cytosolic PEPCK deficiencyand NMDA receptor glutamate insensitivity. Mol GenetMetab 2014;113:161■170.4文献成人期の課題

元のページ  ../index.html#56

このブックを見る