[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)].
[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)].
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Original abstract
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.