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Lesch–Nyhan syndrome

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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Complications
Kidney failure, megaloblastic anemia
Differential diagnosis
Cerebral palsy, dystonia, familial dysautonomia
Frequency
3 in 380,000
Other names
Juvenile gout, Primary hyperuricemia syndrome, Choreoathetosis self-mutilation syndrome, X-linked primary hyperuricemia, HGPRT deficiency
Specialty
Endocrinology
Symptoms
Self-harm, dystonia, chorea, spasticity, intellectual disability, hyperuricemia

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Overview

Signs and symptoms

Genetics

Pathophysiology

Diagnosis

Treatment

Prognosis

History

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Map overview Semantic statistics

Lesch–Nyhan syndrome

Nodes153
Edges152
Triples90
Avg. degree1.99
Density0.013072
Components1

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Lesch–Nyhan syndrome

Top relations

related to Testing · 19
Lesch–Nyhan syndrome → Biochemical, DNA, HGPRT-deficient, However, HPRT1, If, If RT-PCR, Individuals, Lesch, LNS, Molecular, Multiplex, Nyhan, PCR, RT-PCR, Sequence, Techniques, The, This
related to Diagnosis · 18
Lesch–Nyhan syndrome → Biting, Cornelia, Diagnosis, Diagnostic, For, However, Lange, Lesch, LNS, Nyhan, Of, Otherwise, Rett, SIB, Signs, Suspicion, Tourette, When
related to Diagnostic approach · 12
Lesch–Nyhan syndrome → Activity, For, HGPRT, HPRT, Hyperuricemia, Lesch, LNS, Molecular, Nyhan, The, This, Twenty-four-hour
related to External links · 12
Lesch–Nyhan syndrome → Child Health, Human Development, Institute, Lesch, Lesch Nyhan, Lesch-Nyhan Syndrome, Love Never Sinks, NICHD, NIH's Office, Nyhan, Patient Advocacy Group, Rare DiseasesGeneReview/NIH/UW
related to Pathophysiology · 9
Lesch–Nyhan syndrome → As, Female, HGPRT, HPRT, In Lesch, LNS, Mutations, Nyhan, X-linked
related to Less severe forms · 6
Lesch–Nyhan syndrome → HPRT, Kelley, Lesch, Nyhan, Seegmiller, Symptoms
Complications · 1
Lesch–Nyhan syndrome → Kidney failure, megaloblastic anemia
Differential diagnosis · 1
Lesch–Nyhan syndrome → Cerebral palsy, dystonia, familial dysautonomia
Frequency · 1
Lesch–Nyhan syndrome → 3 in 380,000
Other names · 1
Lesch–Nyhan syndrome → Juvenile gout, Primary hyperuricemia syndrome, Choreoathetosis self-mutilation syndrome, X-linked primary hyperuricemia, HGPRT deficiency

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Important terminology

lns acid uric may disease affected lesch needed syndrome nyhan citation gene symptoms hyperuricemia individuals gout mutations blood hgprt kidney

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Lesch–Nyhan syndromeComplicationsKidney failure, megaloblastic anemia1.00infobox
Lesch–Nyhan syndromeDifferential diagnosisCerebral palsy, dystonia, familial dysautonomia1.00infobox
Lesch–Nyhan syndromeFrequency3 in 380,0001.00infobox
Lesch–Nyhan syndromeOther namesJuvenile gout, Primary hyperuricemia syndrome, Choreoathetosis self-mutilation syndrome, X-linked primary hyperuricemia, HGPRT deficiency1.00infobox
Lesch–Nyhan syndromeSpecialtyEndocrinology1.00infobox
Lesch–Nyhan syndromeSymptomsSelf-harm, dystonia, chorea, spasticity, intellectual disability, hyperuricemia1.00infobox
allopurinol that reduce the levels of uric acid in the bloodinstance ofrespond well to treatment with medications0.80text
loss of motor controlinstance ofextrapyramidal involvement causes abnormal involuntary muscle contractions0.80text
TEMPOL ameliorate the effects of hyperuricemiainstance ofand SOD-mimetics0.80text
xanthine causes the diseaseinstance ofIt may be that oxidative stress induced by some other oxypurine0.80text
close family relatives on the female sideinstance ofand are particularly helpful for subsequent 'carrier testing' in at-risk females0.80text
RT-PCRinstance ofTechniques0.80text

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