Familial Spinocerebellar Degeneration, Hemolytic Anemia, and Glutathione Deficiency

Frederick Richards II, MD; M. Robert Cooper, MD; Larry A. Pearce, MD; Robert J. Cowan, MD; Charles L. Spurr, MD
Arch Intern Med. 1974;134(3):534-537. doi:10.1001/archinte.1974.00320210144022.
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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 1.  —A 35-year-old woman was examined initially in June 1963 (when she was age 27). She had a mild hemolytic anemia due to GSH deficiency. The only physical abnormalities at that time were absent reflexes in the lower extremities. In 1965, she developed psychotic behavior and a drop in hemoglobin values shortly after receiving a sulfa drug for a urinary tract infection. In July 1971, she had developed a mild ataxia with impairment of coordination and dysmetria in both her upper and lower extremities.


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