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A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells
Author(s) -
Sumi S.,
Ueta A.,
Maeda T.,
Ito T.,
Ohkubo Y.,
Togari H.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000028838.24871.8e
Subject(s) - inosine , enzyme , biochemistry , adenosine triphosphate , inosine monophosphate , biology , chemistry , microbiology and biotechnology , nucleotide , gene
Summary: 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.