Further Evidence for a ‘New’ Purine Defect, Inosine Triphosphate (ITP) Pyrophosphohydrolase Deficiency
Inosine triphosphate (ITP) was originally identified in 1955 in nucleotide extracts from rat liver mitochondria. Vanderheiden in 1964 was the first to report high levels of ITP in fresh human erythrocytes He subsequently found high ITP concentrations in the erythrocytes of 7 out of some 6000 subjects screened2 and demonstrated that the presence of ITP could be related to a deficiency of the enzyme inosine triphosphate pyrophosphohydrolase (ITPase: EC 18.104.22.168). Subsequent studies by Henderson’s group also supported an inverse relationship between ITP concentrations and ITPase activity.
KeywordsHigh Performance Liquid Chromatography Lysed Erythrocyte Intact Erythrocyte Inosine Triphosphate Absorbance Unit Full Scale
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