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6-PHOSPHOGLUCONOLACTONASE DEFICIENCY

6-PHOSPHOGLUCONOLACTONASE DEFICIENCY

Alternative titles; symbolsPGLS DEFICIENCY6PGL DEFICIENCY▼ Clinical FeaturesBeutler et al. (1985) found a family segregating for partial deficiency of 6-phosphog...

Alternative titles; symbols

  • PGLS DEFICIENCY
  • 6PGL DEFICIENCY

▼ Clinical Features
Beutler et al. (1985) found a family segregating for partial deficiency of 6-phosphogluconolactonase (PGLS; 604951) as an autosomal dominant trait. Hemolytic anemia occurred in a 14-month-old girl who was heterozygous for G6PD deficiency of nonhemolytic type and for 6PGL deficiency. The authors concluded that the child inherited the 6PGL deficiency from the mother and the G6PD variant from the father. Although he was not available for study, it was thought that he also gave the daughter alpha-thalassemia trait. The interaction of 6PGL deficiency with the G6PD polymorphic variant was thought to be responsible for the hemolytic anemia.

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