Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.
Hereditary hemolytic anemia, a dominantly transmitted disorder, has affected 12 family members spanning three generations. The concentration of adenosine triphosphate in the red cells was about half that of comparably reticulocyte-rich blood. Since adenosine deaminase and adenosine kinase compete for a common substrate, the greatly increased activity of the former may interfere with nucleotide salvage via the latter.
D000227:Adenine Nucleotides / Q000097:blood; D000243:Adenosine Deaminase / Q000097:blood*; D000248:Adenosine Kinase / Q000097:blood; D000255:Adenosine Triphosphate / Q000097:blood*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood* / Q000201:enzymology / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology*; D005799:Genes, Dominant; D006801:Humans; D009700:Nucleoside Deaminases / Q000097:blood*; D010375:Pedigree; D012156:Reticulocytes / Q000378:metabolism
D000227:Adenine Nucleotides; D000255:Adenosine Triphosphate; D000248:Adenosine Kinase; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase