1963PEDIATRICSRequires access

GASTROINTESTINAL MALABSORPTION ASSOCIATED WITH CYSTINURIA

William H. Fleming, Gordon B. Avery, R. Irvin Morgan, Thomas E. Cone

Open publisher page 21 citations

Abstract

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.

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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.

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Available abstract

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.

Key concepts: Cystinuria, Aminoaciduria, Medicine, Steatorrhea, Rickets, Malabsorption, Internal medicine, Vitamin D and neurology

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