| The diagnosis of HPRT deficiency in the 21st century. | |
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MedLine Citation:
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PMID: 18600505 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have studied 36 patients with HPRT deficiency, 25 with Lesch-Nyhan syndrome and 11 with partial HPRT deficiency (grades 1 to 3). Patients diagnosed with HPRT deficiency have increased 50% since 2000. The most relevant recent advances have been made in molecular diagnosis. Nevertheless, enzyme determinations are still essential for the diagnosis of HPRT deficiency. Therapy for the neurological manifestations of HPRT deficiency has not advanced. Allopurinol remains the drug of choice to diminish uric acid overproduction, but the optimal allopurinol dose must be established in each patient to prevent xanthine or uric acid urolithiasis, a process aided by sequential determination of urinary oxypurines and uric acid. |
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Authors:
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R J Torres; J G Puig |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
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: 564-9 Citation Subset: IM |
Affiliation:
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Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain. rtorres.hulp@salud.madrid.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Allopurinol / therapeutic use Child, Preschool Humans Hypoxanthine Phosphoribosyltransferase / deficiency*, genetics, metabolism* Lesch-Nyhan Syndrome / diagnosis*, drug therapy, enzymology, metabolism Mutation Purines / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Purines; 120-73-0/purine; 315-30-0/Allopurinol; EC 2.4.2.8/Hypoxanthine Phosphoribosyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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