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Lesch–Nyhan syndrome (LNS) is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American…
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lns acid uric may disease affected lesch needed syndrome nyhan citation gene symptoms hyperuricemia individuals gout mutations blood hgprt kidney
| Subject | Predicate | Object | Confidence | Src |
|---|---|---|---|---|
| Lesch–Nyhan syndrome | Complications | Kidney failure, megaloblastic anemia | 1.00 | infobox |
| Lesch–Nyhan syndrome | Differential diagnosis | Cerebral palsy, dystonia, familial dysautonomia | 1.00 | infobox |
| Lesch–Nyhan syndrome | Frequency | 3 in 380,000 | 1.00 | infobox |
| Lesch–Nyhan syndrome | Other names | Juvenile gout, Primary hyperuricemia syndrome, Choreoathetosis self-mutilation syndrome, X-linked primary hyperuricemia, HGPRT deficiency | 1.00 | infobox |
| Lesch–Nyhan syndrome | Specialty | Endocrinology | 1.00 | infobox |
| Lesch–Nyhan syndrome | Symptoms | Self-harm, dystonia, chorea, spasticity, intellectual disability, hyperuricemia | 1.00 | infobox |
| allopurinol that reduce the levels of uric acid in the blood | instance of | respond well to treatment with medications | 0.80 | text |
| loss of motor control | instance of | extrapyramidal involvement causes abnormal involuntary muscle contractions | 0.80 | text |
| TEMPOL ameliorate the effects of hyperuricemia | instance of | and SOD-mimetics | 0.80 | text |
| xanthine causes the disease | instance of | It may be that oxidative stress induced by some other oxypurine | 0.80 | text |
| close family relatives on the female side | instance of | and are particularly helpful for subsequent 'carrier testing' in at-risk females | 0.80 | text |
| RT-PCR | instance of | Techniques | 0.80 | text |
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