TY - JOUR
T1 - Hereditary pyruvate kinase deficiency
T2 - Role of the abnormal enzyme in red cell pathophysiology
AU - Zanella, A.
AU - Rebulla, P.
AU - Vullo, C.
AU - Izzo, C.
AU - Tedesco, F.
AU - Sirchia, G.
PY - 1978
Y1 - 1978
N2 - Two new mutant Pks, electrophoretically identical but kinetically slightly different, are reported. These two clinically innocuous PK variants, encountered in two non-related subjects, have combined in their daughter to give a fully expressed haemolytic anaemia. The functional abnormalities of the daughter's PK (increased K 0. 5 PEP, abnormal response to FDP, increased urea and guanidine-HCl stability, abnormal isoelectrofocusing and electrophoretic patterns) were like those of the parents but more pronounced, except for thermostability that was normal in the proband although markedly decreased in both parents. The family examined demonstrates that there is no relationship between in vitro properties of the variant and the severity of haemolysis. The hypothesis is put forward that the cause of haemolysis in PK deficiency may be associated with another defect located in the red cell membrane.
AB - Two new mutant Pks, electrophoretically identical but kinetically slightly different, are reported. These two clinically innocuous PK variants, encountered in two non-related subjects, have combined in their daughter to give a fully expressed haemolytic anaemia. The functional abnormalities of the daughter's PK (increased K 0. 5 PEP, abnormal response to FDP, increased urea and guanidine-HCl stability, abnormal isoelectrofocusing and electrophoretic patterns) were like those of the parents but more pronounced, except for thermostability that was normal in the proband although markedly decreased in both parents. The family examined demonstrates that there is no relationship between in vitro properties of the variant and the severity of haemolysis. The hypothesis is put forward that the cause of haemolysis in PK deficiency may be associated with another defect located in the red cell membrane.
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M3 - Article
C2 - 728372
AN - SCOPUS:0018145521
VL - 40
SP - 551
EP - 562
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 4
ER -