Lesch-Nyhan syndrome
Uric acid disease
Lesch-Nyhan syndrome is a rare inherited disorder causing the body to overproduce uric acid, leading to gout, kidney problems, and neurological complications including involuntary movements and severe self-injurious behavior.
Affected individuals, almost always male, may compulsively bite their lips and fingers despite understanding the harm.
The condition typically manifests in infancy.
Crystal-induced joint inflammation
- joint inflammationSwelling where bones meet
- kidney stonesMineral formations in organs
- arthritisInflamed joint disease
- colchicineGout medication from flowers
Movement disorder causing postures
- spasticityPathological muscle tightness
- hypotoniaDecreased muscle tone condition
- dysarthriaMotor speech muscle disorder
- dysphagiaMedical swallowing difficulty
cognitive impairment · basal ganglia · dopamine · neurodegeneration · developmental delay · intellectual disability · movement disorder · opisthotonus
Intentional harm to oneself
- compulsiveUnable to stop oneself
- behavioralRelating to conduct
- aggressionHostile or attacking behavior
- restraintsThings that hold back
Nitrogenous purine metabolite
- purineTwo-fused-ring nitrogenous base
- overproductionExcessive manufacture beyond need
- nucleotideGenetic code subunit
- metabolismCellular nutrient conversion
allopurinol · adenine · salvage pathway · urate · biochemical
Masked unless paired identically
- mutationPermanent DNA alteration
- carrierOne that transports
- chromosomeDNA strand carrying genes
- hereditaryPassed through generations
pedigree · alleles · DNA · genotype · phenotype · inherited · de novo · germline
State of being widespread
- incidenceRate of occurrence
- underdiagnosedNot identified enough
- pediatricRelating to child medicine
- clinical trialsControlled health research experiments
genetic counseling · multidisciplinary · prognosis · supportive care · lifespan
gout
Crystal-induced joint inflammation
- joint inflammationSwelling where bones meet
- kidney stonesMineral formations in organs
- arthritisInflamed joint disease
dystonia
Movement disorder causing postures
- spasticityPathological muscle tightness
- hypotoniaDecreased muscle tone condition
- dysarthriaMotor speech muscle disorder
dysphagia · cognitive impairment · basal ganglia · dopamine · neurodegeneration · developmental delay · intellectual disability · movement disorder · opisthotonus
self-mutilation
Intentional harm to oneself
- compulsiveUnable to stop oneself
- behavioralRelating to conduct
- aggressionHostile or attacking behavior
uric acid
Nitrogenous purine metabolite
- purineTwo-fused-ring nitrogenous base
- overproductionExcessive manufacture beyond need
- nucleotideGenetic code subunit
metabolism · allopurinol · adenine · salvage pathway · urate · biochemical
recessive
Masked unless paired identically
- mutationPermanent DNA alteration
- carrierOne that transports
- chromosomeDNA strand carrying genes
hereditary · pedigree · alleles · DNA · genotype · phenotype · inherited · de novo · germline · penetrance
prevalence
State of being widespread
- incidenceRate of occurrence
- underdiagnosedNot identified enough
- pediatricRelating to child medicine
clinical trials · genetic counseling · multidisciplinary · prognosis · supportive care · lifespan
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- Genetic SyndromesBRCA1, neurofibromatosis, tuberous sclerosis, progeria, cystic fibrosis
- Metabolic DisordersPKU, Tay-Sachs disease, Tay-Sachs, Niemann-Pick disease, Krabbe disease
- X-linked geneticsX chromosome, hemophilia, color blindness, colorblindness, red-green blindness
- gout disordersgout
- purinesadenine, guanine, xanthine, purines, caffeine
Lesch-Nyhan syndromehealthy
In good physical condition
able-bodied · wellness · neurotypical · unaffected · asymptomatic