Lesch-Nyhan syndrome


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Lesch-Nyhan syndrome

[′lesh ′nī‚han ‚sin‚drōm]
(medicine)
A hereditary disease of male children, transmitted as an X-linked recessive, characterized by hyperuricemia, deficiency of hypoxanthine-guanine phosphoribosyl transferase, mental retardation, spastic cerebral palsy, choreathetosis, and self-mutilating biting.
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KEY WORDS: Lesch-Nyhan syndrome, Hypoxanthine-guanine phosphoribosyl transferase 1 deficiency, Oral hemorrhage, Self-mutilation, Self-injurious behavior.
It is important to recognise this condition, as it can be the first sign of severe neurological disorders related to self-mutilation such as familial dysautonomia (insensitivity to pain), congenital indifference to pain, Lesch-Nyhan syndrome or Tourette's syndrome.
Lesch-Nyhan syndrome is caused by defects in the HPRT1 gene, known for its essential "housekeeping duties," among them helping generate purine nucleotides - the building blocks of DNA and RNA.
Neurodegenerative disorders: Huntington's disease, Wilson's disease, parkinsonian syndromes, Hallervorden-Spatz disease, Fahr's syndrome, globus pallidus and spinocerebellar degenerations, lysosomal storage diseases, aminoacidurias, mitochondrial disorders, neuroacanthocytosis, Lesch-Nyhan syndrome, ataxia telangiectasia
The behavior cannot be attributed to another mental or medical disorder, such as psychotic disorder, pervasive developmental disorder, mental retardation, or Lesch-Nyhan syndrome.
Skin picking, obsessive-compulsive disorder (OCD), psychosis, and catatonia are seen at increased rates in patients who have Prader-Willi syndrome, while Lesch-Nyhan syndrome is associated with biting of the lip, tongue, and fingers that can necessitate teeth extraction in some extreme cases.
Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome.
In his presidential address to the Society of Pediatric Research, William Nyhan introduced the term "behavioral phenotype" as "behaviors which are an integral part of certain genetic disorders," illustrating the point by emphasizing the role of organic and genetic factors in aggressive self-mutilation seen in Lesch-Nyhan syndrome.