Abstract
A MAN with cystathioninuria, as well as physical and mental abnormalities, is described below. We believe that this patient represents the second reported case of this entity. Five of his relatives also had elevated cystathionine excretion but were otherwise normal.Cystathioninuria was first described in 1959 by Harris, Penrose and Thomas1 in a sixty-four-year-old female imbecile who had bilateral talipes calcaneovalgus. Two of the patient's relatives also had cystathioninuria of a lesser degree but were otherwise normal.Case ReportA 44-year-old pocketbook maker was admitted to the hospital because of progressive enlargement of the hands and inability to work. He . . .
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