Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency.

@article{Richards1974FamilialSD,
  title={Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency.},
  author={F. Richards and M. Cooper and L. Pearce and R. Cowan and C. Spurr},
  journal={Archives of internal medicine},
  year={1974},
  volume={134 3},
  pages={
          534-7
        }
}
This report presents a new syndrome of hemolytic anemia, spinocerebellar degeneration, peripheral neuropathy, myopathy, and aminoaciduria associated with a deficiency in the reduced form of glutathione (GSH). Preliminary studies indicate that this may be the only reported family with GSH deficiency due to γglutamyl-cysteine synthetase deficiency. 1 Patients with autosomal recessive forms of spinocerebellar degeneration should be examined for disorders of GSH synthesis. Patient Summaries Patient… Expand
Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to γ-glutamylcysteine synthetase deficiency in a patient of Moroccan origin
TLDR
The fourth case of GCS deficiency presenting neuropathy is reported, giving further support to the eventual relationship between this enzymopathy and neurological damage. Expand
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
TLDR
Three unrelated Japanese patients with chronic nonspherocytic hemolytic anemia wer found to have marked deficiency of red blood cell (RBC) reduced glutathoine (GSH) (4.4, 13.1%, and 6.9%) and one patient had decreased glutathione synthetase activity and the other two were moderately deficient in gamma-glutamylcystine Synthetase. Expand
Three Cases of Hereditary Nonspherocytic Hemolytic Anemia Associated With Red Blood Cell Glutathione Deficiency
TLDR
Three unrelated Japanese patients with chronic nonspherocytic hemolytic anemia wer found to have marked deficiency of red blood cell (RBC) reduced glutathoine (GSH) (4.4, 13.1%, and 6.9%) and one patient had decreased glutathione synthetase activity and the other two were moderately deficient in gamma-glutamylcystine Synthetase. Expand
Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia.
TLDR
It is concluded that either the occurrence of neurologic symptoms in the other reported family was a chance association or that the clinical expression of this rare defect is pleomorphic. Expand
Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia.
TLDR
It is concluded that either the occurrence of neurologic symptoms in the other reported family was a chance association or that the clinical expression of this rare defect is pleomorphic. Expand
A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia.
TLDR
A Dutch kindred with 1 suspected case of GCS deficiency is examined, and the proband and her GCS- deficient grandson were identified as homozygous for a 473C-->T substitution, changing codon 158 from CCC for proline into CTC for leucine. Expand
Hereditary non‐spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies
TLDR
The present study demonstrates that GSH‐S deficiency is also present in Spain and further supports the molecular and clinical heterogeneity of this enzymopathy. Expand
A tentative classification of recessively inherited ataxias.
  • A. Barbeau
  • Medicine
  • The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
  • 1982
TLDR
Six principal types of progressive ataxic disorders are further delineated by the age of onset, and sub-types depend on the presence of absence of eye and ear signs, whereas eponymic or regional denominations are used only for simplicity. Expand
Patients with genetic defects in the ?-glutamyl cycle 1 The Conference on Glutathione and Glutathion
TLDR
Investigation of other patients with inherited defects in the γ-glutamyl cycle to learn more about the biological role of GSH in man is needed. Expand
Hemolytic Anemia due to Other Enzyme Deficiencies
Hexokinase deficiency was first described by Lohr et al.1 in patients with Fanconi’s syndrome. In these patients the enzyme deficiency was probably a secondary phenomenon arising from chromosomeExpand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 13 REFERENCES
Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies.
TLDR
A new biochemical defect of erythrocytes is described: glutathione deficiency, associated with a clinical picture of congenital nonspherocytic hemolytic anemia which is fairly well compensated and consistent with an autosomal recessive pattern of inheritance. Expand
-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia.
Abstract In some families with hemolytic anemia and a low level of reduced glutathione in erythrocytes, the disorder is associated with a deficiency of glutathione synthetase, the second of two enz...
Mechanisms of hemolysis--the minimal red-cell defect.
TLDR
Red cells may undergo lysis in the intravascular space, or they may be destroyed in the reticuloendothelial system (RES). Expand
The mechanism of glutathione destruction and protection in drug-sensitive and non-sensitive erythrocytes; in vitro studies.
TLDR
Examining various enzyme systems in red cells indicated that sensitivity to these drugs was not due to a defect in catalase, carbonic anhydrase, or cholinesterase activity, and that glycolysis was sufficiently normal to result in normal incorporation of radioactive phosphorus and that blocking glyCOlysis with sodium fluoride did not cause non-sensitive cells to behave like sensitive cells in the in vitro study system. Expand
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease.
TLDR
In a 32-year-old man with a well compensated hemolytic disorder, the use of glutamyl-cysteine synthetase in the synthesis of glutathione appears to be safe and effective. Expand
Methaemoglobin reduction test: a new, simple, in vitro test for identifying primaquine-sensitivity.
TLDR
Two modifications of a new test for primaquine-sensitivity, the methaemoglobin reduction test, are described in detail in this paper and are practical for surveying large population groups in the field. Expand
Glutathione biosynthesis in human erythrocytes. I. Identification of the enzymes of glutathione synthesis in hemolysates.
TLDR
The capacity for erythrocytes to synthesize glutathione exceeds the rate of glutATHione turnover by 150-fold, indicating that there is considerable reserve capacity for glutathion synthesis. Expand
A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase Deficiency
TLDR
A new type of screening procedure for the detection of enzymatic defects of the red cell has been described, and the same general procedure should be readily adaptable to the Detection of other enzyme deficiencies of red cells, such as phosphogluconate dehydrogenase deficiency or triosephosphate isomerase deficiency. Expand
A simple visual screening test for glucose-6-phosphate dehydrogenase deficiency employing ascorbate and cyanide.
TLDR
Hemolytic effects of such oxidant compounds as primaquine, acetylphenylhydrazine and sulfonamides may exist for a number of reasons, by far the most common of which is self-reinforcing mechanism. Expand
Glutathione and the hexose monophosphate shunt in phagocytizing and hydrogen peroxide-treated rat leukocytes.
  • P. Reed
  • Chemistry, Medicine
  • The Journal of biological chemistry
  • 1969
TLDR
The data indicate that both phagocytosis and hydrogen peroxide stimulate rat leukocyte hexose monophosphate shunt activity, and similar effects of inhibitors on these two processes suggests that endogenously generated hydrogenperoxide may stimulate the direct oxidation of glucose in phagocrytizing cells. Expand
...
1
2
...