Genetic studies of human erythrocyte inosine triphosphatase

The high concentrations of inosine triphosphate in human erythrocytes of some subjects has been related to a deficiency in intracellular inosine triphosphatase. Evidence has been presented for genetic transmission of this enzyme and for the existence of a homozygous-heterozygous relationship. Pedigree studies of individuals with erythrocyte ITPase deficiency suggest a Mendelian autosomal trait.This investigation was partly supported by PHS Research Grant No. Am-11116 from the National Institute of Arthritis and Metabolic Disorders.