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.
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Authors | E Ludescher, E jarosch, H berger |
Journal | Padiatrie und Padologie
(Padiatr Padol)
Vol. 10
Issue 1
Pg. 66-73
( 1975)
ISSN: 0030-9338 [Print] Austria |
Vernacular Title | Störung der renal tubulären Histidinrückresorption bei einem Patienten mit Cystin-Lysinurie verbunden mit schwerer cerebraler Schädigung |
PMID | 1124211
(Publication Type: English Abstract, Journal Article)
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Chemical References |
- Levodopa
- Histidine
- Lysine
|
Topics |
- Amino Acid Metabolism, Inborn Errors
(complications, urine)
- Brain Damage, Chronic
(urine)
- Child
- Cystinuria
(complications)
- Histidine
(metabolism)
- Humans
- Intellectual Disability
(complications)
- Kidney Tubules
(metabolism)
- Levodopa
(therapeutic use)
- Lysine
(urine)
- Male
- Parkinson Disease
(complications, drug therapy)
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