Hereditary high-adenosine triphosphate syndrome: study of a new variant.
A new variant of hereditary hemolytic anemia in a family due to high adenosine triphosphate (ATP) is reported. The increase in ATP levels varied from 83 to 105% in the family members. Low 2,3-diphosphoglycerate levels and low 2,3-diphosphoglyceromutase activity were observed in three family members, with normal glucose-6-phosphate dehydrogenase and pyruvate kinase activity.
D000255:Adenosine Triphosphate / Q000378:metabolism*; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood / Q000235:genetics; D001731:Bisphosphoglycerate Mutase / Q000378:metabolism; D002675:Child, Preschool; D004163:Diphosphoglyceric Acids; D004912:Erythrocytes / Q000201:enzymology / Q000378:metabolism; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011770:Pyruvate Kinase / Q000378:metabolism
D004163:Diphosphoglyceric Acids; D000255:Adenosine Triphosphate; D005954:Glucosephosphate Dehydrogenase; D011770:Pyruvate Kinase; D001731:Bisphosphoglycerate Mutase