[Neurologic and psychiatric aspects of Lesch-Nyhan syndrome].
The Lesch-Nyhan syndrome - the complete absence of hypoxanthine-guanine-phosphoribosyl transferase - was also found in some cases in the GDR. On the basis of a literature study considering the reports on 55 cases found in the world literature it can be stated that besides the disturbance of the purine metabolism symptoms of the dysfunction of the extrapyramidal system, especially of the stem ganglia, are never absent. The syndrome shows a multitude of neurological and psychiatric variants which cannot be explained exclusively by the loss of the enzyme activity. In the individual families new mutations of the gene locus are present, the phaenotypology of which can also be explained by variable compensatory activation of other enzymes, by physico-chemical variants of the inactive enzyme protein and by its antigenic effectiveness. The research work about this - also genetically interesting - syndrome has not been completed yet. But it points to the vital importance of the urine re-utilisation, especially in the early phase of brain maturing.
D000293:Adolescent; D002493:Central Nervous System Diseases / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D011687:Purines / Q000378:metabolism; D012652:Self Mutilation / Q000201:enzymology
D011687:Purines; D007041:Hypoxanthine Phosphoribosyltransferase
Neurologisch-psychiatrische Aspekte beim Lesch-Nyhan-Syndrom.