title: A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells.
abstract: Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is characterized by abnormal accumulation of inosine triphosphate. We describe the first Japanese case with ITPase deficiency and demonstrate that the deficiency of ITPase activity is not only found in erythrocytes but also in white blood cells.
authors.affiliation: Department of Pediatrics, Nagoya City University, Graduate School of Medical Sciences, Mizuyo ku, Nagoya, Japan. sumi@med.nagoya-cu.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Sumi
authors.forename: A
authors.initials: A
authors.lastname: Ueta
authors.forename: T
authors.initials: T
authors.lastname: Maeda
authors.forename: T
authors.initials: T
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Ohkubo
authors.forename: H
authors.initials: H
authors.lastname: Togari
mesh_terms: D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007293:Inosine Triphosphate / Q000378:metabolism; D007564:Japan; D007962:Leukocytes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D011755:Pyrophosphatases / Q000172:deficiency*; D000097630:Inosine Triphosphatase
chemical_list: D007293:Inosine Triphosphate; D011755:Pyrophosphatases; D000097630:Inosine Triphosphatase