[Pathogenetic mechanisms and therapy of a subclinical form of Lesch-Nyhan syndrome].
The results of clinical, experimental psychological and biochemical studies of patients with a subclinical form of Lesch-Nyhan syndrome suggested a reduction of the inhibitory influence of the caudate nucleus due to incomplete genetic defect of Hg-PRTase and related disorders of other types of metabolism in the area of basal ganglia as one of the links of pathogenesis. The pathogenetic therapy is based on maintaining high activity of Hg-PRTase by dietary treatment with limited intake of exogenous purines.
Semenova
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IA
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D008297:Male; D011599:Psychopathology; D011687:Purines / Q000008:administration & dosage; D014527:Uric Acid / Q000652:urine
D011687:Purines; D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase
O patogeneticheskikh mekhanizmakh i terapii stertoĭ formy sindromy Lesha--Nikhena.