期刊
CELLULAR AND MOLECULAR LIFE SCIENCES
卷 62, 期 17, 页码 1938-1945出版社
SPRINGER BASEL AG
DOI: 10.1007/s00018-005-5163-7
关键词
glutathione synthetase; 5-oxoprolinuria; metabolic acidosis; haemolytic anaemia; missense mutations; splice mutations; negative cooperativity
Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step procedure where the last step is catalysed by the enzyme glutathione synthetase (GSS). GSS deficiency is inherited autosomal recessively, and patients with this disease can be divided into three groups, according to their clinical phenotype. Mildly affected patients have mutations affecting the stability of the enzyme, causing a compensated haemolytic anaemia; moderately affected patients have, in addition, metabolic acidosis; and severely affected patients also develop neurological defects and show increased susceptibility to bacterial infections. Moderately and severely affected patients have mutations that compromise the catalytic properties of the enzyme. 5-Oxoprolinuria appears in all three groups, but is more pronounced in the two latter groups. Today, no cure can be offered these patients; they are given vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis.
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