Abstract
A 52-year-old male was admitted to our hospital with chief complaint of jaundice. On admission, anemia and hepatomegaly was detected. Laboratory findings included normochromic anemia, hyperbilirubinemia with predominant indirect bilirubin and markedly increased urinary urobilinogen. In peripheral blood, about 5% myeloblast-like cells were observed.
Enzymatic analyses of red blood cells showed reduced pyruvate kinase (PK) activity. But the patient's sister, two brothers and two daughters showed normal PK activity.
According to the recommendation of the International Committee for Standardization in Haematology (ICSH), this abnormal PK variant was named PK Matsumoto.
