| Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency. | |
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MedLine Citation:
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PMID: 18600507 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neurobehavioral manifestations of complete HPRT deficiency include severe action dystonia, choreathetosis, alteration of executive functions, and self-injurious behavior. Dystonic manifestations are also present in patients with partial HPRT deficiency. Pathophysiology of these manifestations is unknown. Guanidinoacetate is a neurotoxin implicated in certain dystonic syndromes. We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency). Urinary guanidinoacetate and creatine levels in HPRT deficient patients were within the normal range. Guanidinoactetate alteration does not seem to be implicated in the pathogenesis of the neurological disease associated with HPRT deficiency. |
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Authors:
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A Verdú; R J Torres; B Merinero; J G Puig |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Nucleosides, nucleotides & nucleic acids Volume: 27 ISSN: 1532-2335 ISO Abbreviation: Nucleosides Nucleotides Nucleic Acids Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-07-07 Completed Date: 2008-10-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100892832 Medline TA: Nucleosides Nucleotides Nucleic Acids Country: United States |
Other Details:
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Languages: eng Pagination: 575-7 Citation Subset: IM |
Affiliation:
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Pediatric Neurology Unit, Hospital Virgen de la Salud, Toledo, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Creatine
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urine* Creatinine / urine Glycine / analogs & derivatives*, urine Humans Hypoxanthine Phosphoribosyltransferase / deficiency* Lesch-Nyhan Syndrome / enzymology, urine* |
| Chemical | |
Reg. No./Substance:
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352-97-6/glycocyamine; 56-40-6/Glycine; 57-00-1/Creatine; 60-27-5/Creatinine; EC 2.4.2.8/Hypoxanthine Phosphoribosyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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