1 Departments of Nuclear Medicine, Pediatrics, and Pathology, United States Naval Hospital National Naval Medical Center, Bethesda, Maryland
A case of cystinuria occurring in a 14-year-old Negro male is presented. The hereditary nature of the aminoaciduria was demonstrated, and the genetic implications are pointed out. Associated with the cystinuria was a severe idiopathic steatorrhea and extreme vitamin D refractory rickets. Suggestive evidence for a depressed absorption of L-lysine from the gut is presented. A satisfactory explanation for the steatorrhea and vitamin D resistant rickets is not apparent.
Submitted on September 24, 1962