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.
—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.
Richards F, Cooper MR, Pearce LA, Cowan RJ, Spurr CL. Familial Spinocerebellar Degeneration, Hemolytic Anemia, and Glutathione Deficiency. Arch Intern Med. 1974;134(3):534–537. doi:10.1001/archinte.1974.00320210144022
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