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January 1969

A Defect in Intestinal Amino Acid Transport in Lowe's Syndrome

Author Affiliations

From the departments of pediatrics (Drs. Bartsocas and Crawford), neurology (Dr. Levy), and medicine (Dr. Thier), Massachusetts General Hospital and Harvard Medical School, Boston. Doctor Bartsocas is now with the Queen Anna-Marie Institute of Child Health, Athens, Greece.

Am J Dis Child. 1969;117(1):93-95. doi:10.1001/archpedi.1969.02100030095010

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