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965 Possible Causes for Lesch Nyhan Syndrome

  • Hyperuricemia

    We report on a 16-day-old male with metabolic acidosis, hyperuricemia, hyperuricosuria, and nephrocalcinosis caused by Lesch-Nyhan syndrome.[ncbi.nlm.nih.gov] A 6-year-old boy was determined to have partial hypoxanthine phosphoribosyl transferase (HPRT) enzyme deficiency without the phenotypic features of Lesch-Nyhan syndrome.[ncbi.nlm.nih.gov] We previously reported a male patient with an 18q21.3 deletion, hyperuricemia and typical symptoms of the Lesch-Nyhan syndrome who lacked hypoxanthine-guanine-phosphoribosyl-transferase[ncbi.nlm.nih.gov]

  • Bruxism

    Shilpa Shetty Varun Pitti C. L. Satish Babu G. P. Surendra Kumar B. C. Deepthi Review Article First Online: 22 January 2011 Abstract Bruxism is a movement disorder characterized by grinding and clenching of teeth. Awake bruxism is found more in females as compared to males while sleep bruxism shows no such gender[…][doi.org]

  • Nephrolithiasis

    […] myeloproliferative disorders, Lesch-Nyhan, or glycogen storage diseases Precipitation of uric acid in renal tubules can cause acute renal failure Cystinuria- 5 percent Cystinuria[pedclerk.bsd.uchicago.edu] Idiopathic hyperuricosuria Thought to be defect in renal tubular uric acid excretion Pure uric acid stones in kids Uncommon, most likely due to tumor lysis syndrome, lymphoproliferative[pedclerk.bsd.uchicago.edu]

  • Gout

    […] furosemide, thiazide diuretics, ethambutol, pyrazinamide, aspirin) lead poisoning (saturnine gout) obesity overproduction: myeloproliferative disorders hemolysis extreme exercise Lesch-Nyhan[radiopaedia.org] Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which your body doesn’t have enough of the enzyme that helps control uric acid levels.[niams.nih.gov] Although Lesch-Nyhan syndrome is known more for the associated bizarre emotional behaviors, there is also overproduction and excretion of uric acid and gouty manifestation[themedicalbiochemistrypage.org]

  • Gouty Arthritis

    syndrome: rare; men with HGPRT deficiency causing hyperuricemia, severe neurologic deficits with developmental disabilities, self mutilation, gouty arthritis ( OMIM: Lesch-Nyhan[pathologyoutlines.com] […] o Lesch-Nyhan syndrome ( choreoathetosis, spasticity, mental retardation, self-mutilation of lips fingertips) · Treatment : colchicine, allopurinol (effective treatment usually[learningradiology.com] Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which your body doesn’t have enough of the enzyme that helps control uric acid levels.[niams.nih.gov]

  • Lesch Nyhan Syndrome

    Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males.[ghr.nlm.nih.gov] - Nyhan syndrome]) Lesch - Nyhan syndrome Lesch-Nyhan syndrome (disorder) X-linked hyperuricemia (disorder) [Ambiguous] deficiency of IMP pyrophosphorylase hypoxanthine guanine[wikidata.org] The signs and symptoms of Lesch-Nyhan variant are often milder than those of Lesch-Nyhan syndrome and do not include self-injury.[ghr.nlm.nih.gov]

  • Xanthinuria

    syndrome.[ncbi.nlm.nih.gov] Patients with Lesch-Nyhan syndrome or patients with partial HGPRT deficiency have developed xanthine nephropathy, acute kidney failure, and stones following treatment with[emedicine.medscape.com] […] its application to the measurement of erythrocyte hypoxanthine guanine phosphoribosyl transferase and adenine phosphoribosyl transferase in a kindred associated with the Lesch-Nyhan[ncbi.nlm.nih.gov]

  • Anemia

    BACKGROUND: Posterior reversible encephalopathy syndrome is a neurotoxic condition that occurs as a result of the failure of posterior circulatory autoregulation in response to acute changes in blood pressure. Overperfusion with resultant disruption of the blood-brain barrier results in vasogenic edema, but not[…][ncbi.nlm.nih.gov]

  • Chronic Gouty Nephropathy

    Nyhan syndrome Caption Philip Baker, an adult with Lesch Nyhan Syndrome.[medicine.academic.ru] HTN, and interstitial nephropathy (autosomal dominant; FJHN1, MCKD2, glomerulocystic kidney disease) Congenital hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan[unboundmedicine.com] Crush injury, rhabdomyolysis, seizures (prolonged, severe) Hereditary enzyme deficiencies X-linked: Hypoxanthine guanine phosphoribosyl transferase deficiency; complete (Lesch-Nyhan[basicmedicalkey.com]

  • Acute Polyarticular Gouty Arthritis

    […] o Lesch-Nyhan syndrome ( choreoathetosis, spasticity, mental retardation, self-mutilation of lips fingertips) · Treatment : colchicine, allopurinol (effective treatment usually[learningradiology.com] […] furosemide, thiazide diuretics, ethambutol, pyrazinamide, aspirin) lead poisoning (saturnine gout) obesity overproduction: myeloproliferative disorders hemolysis extreme exercise Lesch-Nyhan[radiopaedia.org] […] owing to underexcretion of uric acid; overproduction because of inherited enzyme defects [hypoxanthine-guanine adenine phosphoribosyltransferase deficiency (also known as Lesch-Nyhan[rheumaknowledgy.com]

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