[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)].
The case of a 12-year-old boy with cystine lysinuria is reported. Unusual in this case was the combination of severe mental retardation, cerebral attacks and temporary Parkinson-like neurological symptoms. Biochemically, a disturbance of the histidine reabsorption of the renal tubes was also apparent. Further examination that the renal amino acid reabsorption could not be influenced by treatment with tryptophan. The possible biochemical relationships are discussed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D001925:Brain Damage, Chronic / Q000652:urine*; D002648:Child; D003555:Cystinuria / Q000150:complications*; D006639:Histidine / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007684:Kidney Tubules / Q000378:metabolism*; D007980:Levodopa / Q000627:therapeutic use; D008239:Lysine / Q000652:urine*; D008297:Male; D010300:Parkinson Disease / Q000150:complications / Q000188:drug therapy
D007980:Levodopa; D006639:Histidine; D008239:Lysine
Störung der renal tubulären Histidinrückresorption bei einem Patienten mit Cystin-Lysinurie verbunden mit schwerer cerebraler Schädigung