Abstract IN certain hereditary diseases involving defective renal transport of amino acids, there is an associated abnormality in intestinal absorption. Defects of this sort have been demonstrated by in vivo or in vitro techniques in cystinuria,1-5 Hartnup disease,6 and familial iminoaciduria.7,8 The following observations were undertaken to determine whether a similar intestinal transport abnormality exists in another disease with renal aminoaciduria, the oculo-cerebro-renal syndrome described by Lowe et al.9 Materials and Methods Two patients with this rare disorder were studied. One was case 2 of Dr. Lowe's original description, now an adult of 23½ years. The second was a 2½-year-old boy manifesting all of the cardinal signs of the disease. These included mental retardation, congenital glaucoma with cataracts, hypotonia, and rickets. Laboratory studies showed systemic acidosis, organic aciduria, decreased renal ammonia production, and generalized aminoaciduria with normal plasma amino acid concentration.Peroral jejunal biopsies were performed using References 1. Milne, M.D., et al: The Intestinal Absorption Defect in Cystinuria , Gut 2:323-337 ( (Dec) ) 1961.Crossref 2. Thier, S.O., et al: Cystinuria: In Vitro Demonstration of an Intestinal Transport Defect , Science 143:482-484 ( (Jan) ) 1964.Crossref 3. McCarthy, C.F., et al: Defective Uptake of Basic Amino Acids and L-cystine by Intestinal Mucosa of Patients With Cystinuria , J Clin Invest 43:1518-1524 ( (Aug) ) 1964.Crossref 4. Fox, M., et al: Evidence Against a Single Renal Transport Defect in Cystinuria , New Eng J Med 270:556-561 ( (March) ) 1964.Crossref 5. Thier, S.O., et al: Cystinuria: Defective Intestinal Transport of Dibasic Amino Acids and Cystine , J Clin Invest 44:442-448 ( (March) ) 1965.Crossref 6. Milne, M.D., et al: The Metabolic Disorder in Hartnup Disease , Quart J Med 29:407-421 ( (July) ) 1960. 7. Morikawa, T., et al: Prolinuria: Defect in Intestinal Absorption of Imino Acids and Glycine , Tohoku J Exp Med 90:106-116 ( (Oct) ) 1966.Crossref 8. Goodman, S.I.; McIntyre, C.A., Jr.; and O'Brien, D.: Impaired Intestinal Transport of Proline in a Patient With Familial Iminoaciduria , J Pediat 71:246-248 ( (Aug) ) 1967.Crossref 9. Lowe, C.U.; Terrey, M.; and MacLachlan, E.A.: Organic Aciduria, Decreased Renal Ammonia Production, Hydrophthalmos, and Mental Retardation , Amer J Dis Child 83:164-184 ( (Feb) ) 1952. 10. Carey, J.B., Jr.: A Simplified Gastrointestinal Biopsy Capsule , Gastroenterology 46:550-557 ( (May) ) 1964. 11. Akedo, H.T., et al: Intestinal Absorption of Amino-Acids: I. The Effect of Vitamin B6 on the Absorption of 1-Amino-Acids Through the Intestine , J Biochem 47:124-130 ( (Jan) ) 1960. 12. Smith, I.: Chromatographic and Electrophoretic Techniques , London: William Heinemann, Ltd., 1960. 13. Chutorian, A., and Rowland, L.P.: Lowe's Syndrome , Neurology 16:115-122 ( (Feb) ) 1966.Crossref 14. Svorc, J., et al: Oculocerebrorenal Syndrome in a Female Child , Amer J Dis Child 114:186-190 ( (Aug) ) 1967. 15. Dalgliesh, C.E.: The Relation Between Pyridoxine and Tryptophan Metabolism Studied in the Rat , Biochem J 52:3-14 ( (Sept) ) 1952. 16. Brown, R.R., and Price, J.M.: Quantitative Studies on Metabolites of Tryptophan in the Urine of the Dog, Cat, Rat, and Man , J Biol Chem 219: 985-997 ( (April) ) 1956. 17. Efron, M.L.: "Quantitative Estimation of Amino Acids in Physiological Fluids Using a Technicon Amino Acid Analyzer," in Automation in Analytical Chemistry , New York: Mediad, Inc., 1965, pp 637-642. 18. Soupart, P.: Urinary Excretion of Free Amino Acids in Normal Adult Men and Women , Clin Chim Acta 4:265, 1959.Crossref 19. Bigwood, E.J., et al: Aminoaciduria and Aminoacidemia , Expos Ann Biochim Med 23:9-86, 1961.
American Journal of Diseases of Children – American Medical Association
Published: Jan 1, 1969