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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References in periodicals archive ?
Self-mutilation behaviour in Lesch-Nyhan syndrome. J Oral Pathol Med 2005; 34(9):573-575.
KEY WORDS: Lesch-Nyhan syndrome, Hypoxanthine-guanine phosphoribosyl transferase 1 deficiency, Oral hemorrhage, Self-mutilation, Self-injurious behavior.
[7] It is important to keep in mind that traumatic oral granuloma can be an initial presentation of a serious underlying medical problem such as Lesch-Nyhan syndrome or familial dysautonomia.
It is important to note that this lesion may be the initial presentation of some serious underlying medical problems, such as Lesch-Nyhan syndrome and familial dysautonomia.
Washington, Oct 13 ( ANI ): Researchers have revealed that a gene mutation responsible for the devastating neurological disorder known as Lesch-Nyhan syndrome may offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer's, Parkinson's and Huntington's diseases.
People with certain genetic syndromes have an apparent predisposition for developing SIB; in some cases (for example, people with Lesch-Nyhan syndrome), it can be a cardinal characteristic.
Secondary Hyperuricemia: No studies have been conducted in patients with secondary hyperuricemia (including organ transplant recipients); febuxostat is not recommended for use in patients whom the rate of urate formation is greatly increased (e.g., malignant disease and its treatment, Lesch-Nyhan syndrome).
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