Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Lesch–Nyhan_syndrome> ?p ?o }
- Lesch–Nyhan_syndrome abstract "Lesch–Nyhan syndrome (LNS), also known as Nyhan's syndrome and juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome. LNS affects about one in 380,000 live births. The disorder was first recognized and clinically characterized by medical student Michael Lesch and his mentor, pediatrician William Nyhan, who published their findings in 1964.The HGPRT deficiency causes a build-up of uric acid in all body fluids. This results in both hyperuricemia and hyperuricosuria, associated with severe gout and kidney problems. Neurological signs include poor muscle control and moderate intellectual disability. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. The etiology of the neurological abnormalities remains unknown. Because a lack of HGPRT causes the body to poorly utilize vitamin B12, some boys may develop megaloblastic anemia.LNS is an X-linked recessive disease; the gene mutation is usually carried by the mother and passed on to her son, although one-third of all cases arise de novo (from new mutations) and do not have a family history. LNS is present at birth in baby boys. Most, but not all, persons with this deficiency have severe mental and physical problems throughout life. There are a few rare cases in the world of affected females.The symptoms caused by the buildup of uric acid (gout and renal symptoms) respond well to treatment with drugs such as allopurinol that reduce the levels of uric acid in the blood. The mental deficits and self-mutilating behavior do not respond well to treatment. There is no cure, but many patients live to adulthood. Several new experimental treatments may alleviate symptoms.".
- Lesch–Nyhan_syndrome icd10 "E79.1".
- Lesch–Nyhan_syndrome icd9 "277.2".
- Lesch–Nyhan_syndrome meshId "D007926".
- Lesch–Nyhan_syndrome omim "308000".
- Lesch–Nyhan_syndrome wikiPageExternalLink 00054660.html.
- Lesch–Nyhan_syndrome wikiPageExternalLink www.CLIMB.org.uk.
- Lesch–Nyhan_syndrome wikiPageExternalLink 1297.asp?index=6035.
- Lesch–Nyhan_syndrome wikiPageExternalLink www.lndinfo.org.
- Lesch–Nyhan_syndrome wikiPageExternalLink www.matheny.org.
- Lesch–Nyhan_syndrome wikiPageExternalLink NBK1149.
- Lesch–Nyhan_syndrome wikiPageExternalLink www.nichd.nih.gov.
- Lesch–Nyhan_syndrome wikiPageID "1115749".
- Lesch–Nyhan_syndrome wikiPageLength "32824".
- Lesch–Nyhan_syndrome wikiPageOutDegree "185".
- Lesch–Nyhan_syndrome wikiPageRevisionID "683119351".
- Lesch–Nyhan_syndrome wikiPageWikiLink 4-Hydroxy-TEMPO.
- Lesch–Nyhan_syndrome wikiPageWikiLink 6-hydroxydopamine.
- Lesch–Nyhan_syndrome wikiPageWikiLink Adenine.
- Lesch–Nyhan_syndrome wikiPageWikiLink Allele.
- Lesch–Nyhan_syndrome wikiPageWikiLink Allopurinol.
- Lesch–Nyhan_syndrome wikiPageWikiLink Amino_acid.
- Lesch–Nyhan_syndrome wikiPageWikiLink Antioxidant.
- Lesch–Nyhan_syndrome wikiPageWikiLink Arthritis.
- Lesch–Nyhan_syndrome wikiPageWikiLink Asymptomatic.
- Lesch–Nyhan_syndrome wikiPageWikiLink Asymptomatic_condition.
- Lesch–Nyhan_syndrome wikiPageWikiLink Atherosclerosis.
- Lesch–Nyhan_syndrome wikiPageWikiLink Autism.
- Lesch–Nyhan_syndrome wikiPageWikiLink Baclofen.
- Lesch–Nyhan_syndrome wikiPageWikiLink Basal_Ganglia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Basal_ganglia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Benzodiazepine.
- Lesch–Nyhan_syndrome wikiPageWikiLink Benzodiazepines.
- Lesch–Nyhan_syndrome wikiPageWikiLink Biochemistry.
- Lesch–Nyhan_syndrome wikiPageWikiLink Biological_tissue.
- Lesch–Nyhan_syndrome wikiPageWikiLink Blood.
- Lesch–Nyhan_syndrome wikiPageWikiLink Blood–brain_barrier.
- Lesch–Nyhan_syndrome wikiPageWikiLink Carbidopa.
- Lesch–Nyhan_syndrome wikiPageWikiLink Category:Inborn_errors_of_purine-pyrimidine_metabolism.
- Lesch–Nyhan_syndrome wikiPageWikiLink Category:Pediatrics.
- Lesch–Nyhan_syndrome wikiPageWikiLink Category:Rare_diseases.
- Lesch–Nyhan_syndrome wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Lesch–Nyhan_syndrome wikiPageWikiLink Category:Syndromes.
- Lesch–Nyhan_syndrome wikiPageWikiLink Cell_(biology).
- Lesch–Nyhan_syndrome wikiPageWikiLink Cell_division.
- Lesch–Nyhan_syndrome wikiPageWikiLink Cerebral_palsy.
- Lesch–Nyhan_syndrome wikiPageWikiLink Childbirth.
- Lesch–Nyhan_syndrome wikiPageWikiLink Chorea_acanthocytosis.
- Lesch–Nyhan_syndrome wikiPageWikiLink Choreoacanthocytosis.
- Lesch–Nyhan_syndrome wikiPageWikiLink Choreoathetosis.
- Lesch–Nyhan_syndrome wikiPageWikiLink Clearance_(medicine).
- Lesch–Nyhan_syndrome wikiPageWikiLink Cognition.
- Lesch–Nyhan_syndrome wikiPageWikiLink Coprolalia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Cornelia_de_Lange_Syndrome.
- Lesch–Nyhan_syndrome wikiPageWikiLink Cornelia_de_Lange_syndrome.
- Lesch–Nyhan_syndrome wikiPageWikiLink Creatinine.
- Lesch–Nyhan_syndrome wikiPageWikiLink Cytosine.
- Lesch–Nyhan_syndrome wikiPageWikiLink DNA.
- Lesch–Nyhan_syndrome wikiPageWikiLink Deep-brain_stimulation.
- Lesch–Nyhan_syndrome wikiPageWikiLink Deep_brain_stimulation.
- Lesch–Nyhan_syndrome wikiPageWikiLink Deviance_(sociology).
- Lesch–Nyhan_syndrome wikiPageWikiLink Diazepam.
- Lesch–Nyhan_syndrome wikiPageWikiLink Dopamine.
- Lesch–Nyhan_syndrome wikiPageWikiLink Dr._William_Nyhan.
- Lesch–Nyhan_syndrome wikiPageWikiLink Dystonia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Enzyme.
- Lesch–Nyhan_syndrome wikiPageWikiLink Etiology_(medicine).
- Lesch–Nyhan_syndrome wikiPageWikiLink Exon.
- Lesch–Nyhan_syndrome wikiPageWikiLink Extrapyramidal_symptoms.
- Lesch–Nyhan_syndrome wikiPageWikiLink Extrapyramidal_system.
- Lesch–Nyhan_syndrome wikiPageWikiLink Familial_dysautonomia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Fibroblast.
- Lesch–Nyhan_syndrome wikiPageWikiLink Free_radicals.
- Lesch–Nyhan_syndrome wikiPageWikiLink GTP_cyclohydrolase.
- Lesch–Nyhan_syndrome wikiPageWikiLink GTP_cyclohydrolase_I.
- Lesch–Nyhan_syndrome wikiPageWikiLink Gene.
- Lesch–Nyhan_syndrome wikiPageWikiLink Genetic_disorder.
- Lesch–Nyhan_syndrome wikiPageWikiLink Germline_mutation.
- Lesch–Nyhan_syndrome wikiPageWikiLink Gout.
- Lesch–Nyhan_syndrome wikiPageWikiLink Guanine.
- Lesch–Nyhan_syndrome wikiPageWikiLink Guanosine_triphosphate.
- Lesch–Nyhan_syndrome wikiPageWikiLink HPRT.
- Lesch–Nyhan_syndrome wikiPageWikiLink Haldanes_rule.
- Lesch–Nyhan_syndrome wikiPageWikiLink Haloperidol.
- Lesch–Nyhan_syndrome wikiPageWikiLink Hematuria.
- Lesch–Nyhan_syndrome wikiPageWikiLink Human_behavior.
- Lesch–Nyhan_syndrome wikiPageWikiLink Huntingtons_disease.
- Lesch–Nyhan_syndrome wikiPageWikiLink Hyperreflexia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Hyperuricemia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Hyperuricosuria.
- Lesch–Nyhan_syndrome wikiPageWikiLink Hypotonia.
- Lesch–Nyhan_syndrome wikiPageWikiLink Hypoxanthine.
- Lesch–Nyhan_syndrome wikiPageWikiLink Hypoxanthine-guanine_phosphoribosyltransferase.
- Lesch–Nyhan_syndrome wikiPageWikiLink Inherited_disorder.
- Lesch–Nyhan_syndrome wikiPageWikiLink Intellectual_disability.
- Lesch–Nyhan_syndrome wikiPageWikiLink J._Edwin_Seegmiller.
- Lesch–Nyhan_syndrome wikiPageWikiLink Johns_Hopkins_University.
- Lesch–Nyhan_syndrome wikiPageWikiLink Journal_of_Inherited_Metabolic_Disease.
- Lesch–Nyhan_syndrome wikiPageWikiLink Kidney.
- Lesch–Nyhan_syndrome wikiPageWikiLink Kidney_disease.