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A New Glucose 6-Phosphate Dehydrogenase Variant (G6PD Thessaloniki) in a Patient with Idiopathic Myelofibrosis

 

作者: George Koliakos,   Maria Kalomenopoulou,   Philippos Grammatikos,   Aphrodite Dimitriadou,   Kokkona Kouzi-Koliakos,   Rea Zacharaki,   George Skaragas,   Alexandra Kokka,   Antonios Trakatellis,  

 

期刊: Human Heredity  (Karger Available online 1989)
卷期: Volume 39, issue 3  

页码: 141-149

 

ISSN:0001-5652

 

年代: 1989

 

DOI:10.1159/000153850

 

出版商: S. Karger AG

 

关键词: G6PD Deficiency;Idiopathic myelofibrosis;Anaemia;X-chromosome

 

数据来源: Karger

 

摘要:

A new deficient glucose 6-phosphate dehydrogenase (G6PD) variant, G6PD Thessaloniki, which was found in the red blood cells of a 70-year-old woman who had idiopathic myelofibrosis, is described. G6PD Thessaloniki had a low Michaelis constant (Km) for G6P (20 µM), high Km for NADP (10.1 µM), normal pH optimum, reduced heat stability, decreased electrophoretic mobility (96–98 % of the normal), increased 2-deoxy-G6P and decreased galactose 6-phosphate utilization. Several other enzymatic activities measured in the patient’s red blood cells were normal. Studies of red blood cell survival and glucose utilization gave evidence of haemolysis caused by defective glucose utilization by the pentose phosphate pathway. The only son of the patient had normal G6PD in his red blood cells. In an attempt to investigate the origin of G6PD Thessaloniki, heat stability tests of G6PD extracted from the patient’s skin have been pe

 

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