Histidinuria: a renal and intestinal histidine transport deficiency found in two mentally retarded children.
Two siblings presenting slight mental retardation showed an abnormal elimination of histidine, their blood levels for the same amino acid being normal. The percentage of tubular resorption of histidine was calculated in both boys, and the values were 40.1 per cent (case 1) and 52.8 per cent (case 2). All other amino acids essayed were normal. After an oral overload test with histidine, a low intestinal absorption was found in the two boys, the values of this test in the parents being intermediate between those of the children and of the three normal controls and corresponding to heterozygosity. In view of the studies carried out on the two boys, it is possible to conclude that they are suffering from an impairment in their histidine membrane transport system which affects the kidney and intestines. Since they are siblings a genetically determined trait may be suspected.
D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids / Q000378:metabolism; D002648:Child; D006639:Histidine / Q000097:blood / Q000378:metabolism* / Q000652:urine; D006801:Humans; D008607:Intellectual Disability / Q000097:blood / Q000378:metabolism* / Q000652:urine; D007408:Intestinal Absorption; D008297:Male; D015499:Renal Tubular Transport, Inborn Errors
D000596:Amino Acids; D006639:Histidine