Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. [PDF]
Orphanet J Rare Dis, 2007 Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic
Torres RJ, Puig JG.
europepmc +6 more sources
Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report. [PDF]
Cureus, 2022 Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase.
Ferrão J +3 more
europepmc +5 more sources
Lesch-Nyhan Syndrome in an Indian Child.
Indian J Dermatol, 2015 Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation. Hereby, we report a case of LNS in a three and half-year-old male child, who presented with characteristic self-mutilating behavior. He had history of developmental delay, difficulty in social interaction,
Chandekar P, Madke B, Kar S, Yadav N.
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Lesch-Nyhan syndrome: case brief of a rare disease [PDF]
, 2018 Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia,
Agarwalla, Sunil Kumar +1 more
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Disability, Relational Equality, and the Expressivist Objection. [PDF]
Hastings Cent RepAbstract Proponents of the expressivist objection argue that the use and provision of testing to select against disability in offspring express negative judgments about existing persons with disabilities. But does the expression of such judgments also wrong those persons?
Magnusson E.
europepmc +2 more sources
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]
J Inherit Metab DisABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Moio MR +7 more
europepmc +2 more sources
Adenylyl cyclase 2 expression and function in neurological diseases. [PDF]
CNS Neurosci TherMutations and expression changes of adenylyl cyclase 2 (Adcy2), a CNS‐enriched enzyme that converts ATP to cAMP, are associated with several neurodegenerative and psychiatric disorders. Abstract Adenylyl cyclases (Adcys) catalyze the formation of cAMP, a secondary messenger essential for cell survival and neurotransmission pathways in the CNS.
Gray M, Nash KR, Yao Y.
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Removable Appliance For Oral Self-Mutilation In Lesch-Nyhan Syndrome. A Case Report [PDF]
, 2021 Objectives Lesch-Nyhan syndrome is a rare inherited disorder associated with self-harming behaviors, delayed mental and motor development, and disturbances such as dysarthria, choreoathetosis, and spasticity.
Eftekhar, Leila +3 more
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Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients [PDF]
, 2015 How to Cite This Article: Boroujerdi R, Shariati M, Naddafnia H, Rezaei H. Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients. Iran J Child Neurol.
BOROUJERDI, Razieh +3 more
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Lesch-Nyhan disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in Argentine patients [PDF]
, 2021 Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia ...
Becerra, Adriana Berónica +6 more
core +1 more source