Abstract
A case of pyruvate kinase variant is reported. The patient, 21-year-old female, was admitted to our hospital with chief complaints of anemia and jaundice which were noted on artificial abortion. On admission, laboratory findings revealed normochromic anemia, hyperbilirubinemia with predominant elevation in indirect bilirubin, elevated serum LDH level and positive hemosiderin in urine. On physical examination, anemia and jaundice were noticed in the conjunctiva and hepatosplenomegaly was detected. With the progress of anemia and jaundice, subjective symptoms of general fatigue and dizziness were aggravated.
The enzymatic analysis of red blood cells showed lowered PK activity, and kinetic studies revealed elevation of Km PEP and reduction of Vmax, Ki ATP and Km ADP. PK activity on urea stabilitytest was unstable and was hardly activated on FDP. Electrophoresis appeared to be of normal pattern. Optimum pH curve was located within normal range, but the peak was narrow. From these data functional abnormality in pyruvate kinase was suggested in this case and designation of PK Itabashi is proposed.
