The first stable variant of erythrocyte glucose‐phosphate isomerase associated with severe hemolytic anemia

@article{Zanella1980TheFS,
  title={The first stable variant of erythrocyte glucose‐phosphate isomerase associated with severe hemolytic anemia},
  author={Alberto Zanella and Crescenzio Izzo and Paolo Rebulla and Lucia Perroni and Mariagabriella Mariani and Giuseppe Canestri and Gabriela Sansone and Girolamo Sirchia},
  journal={American Journal of Hematology},
  year={1980},
  volume={9}
}
A new variant of glucosephosphate isomerase (GPI) associated with hemolytic anemia, mental retardation, and muscular hypotonia is described. The defective enzyme showed increased affinity for fructose‐6‐phosphate (F‐6‐P), decreased affinity for glucose‐6‐phosphate (G‐6‐P), altered electrophoretic and isoelectrofocusing patterns, and shift to the left of the precipitin curve. The enzyme was stable under all the conditions tested (heat, urea, guanidine‐HCl, and storage). Optimum pH, Ki for 6… 
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TLDR
This chapter reviews the clinical pattern of the condition; biochemical and molecular studies; structure-function relationships; the molecular basis of neurological dysfunctions sometimes associated with GPI deficiency; and the correlation between the severity of the anaemia and the molecular defect.
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TLDR
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TLDR
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TLDR
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TLDR
Four unrelated Italian patients with chronic hemolytic anemia associated with glucose phosphate isomerase (GPI) deficiency were studied using intronic primers, and correlation was made between mutations, biochemical characteristics of the enzyme, and clinical course of the disease.
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TLDR
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TLDR
The 4th Italian case of glucose phosphate isomerase (GPI) deficiency is reported, with a young man suffering from chronic haemolytic anaemia since birth with occasional transfusion requirement and the provisional name of GPI is proposed “Morcone”.
Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg)
TLDR
It is suggested that the clinical syndrome results from generalised GPI deficiency due to a decreased specific activity of the variant enzyme, which cannot be compensated by an increase of de-novo synthesis of GPI protein even in cells exhibiting active protein synthesis such as granulocytes and muscle cells.
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