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3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction

dc.contributor.authorDasouki, Majeden_US
dc.contributor.authorBuchanan, Douglas N.en_US
dc.contributor.authorMercer, N.en_US
dc.contributor.authorGibson, K. M.en_US
dc.contributor.authorThoene, Jess G.en_US
dc.date.accessioned2006-09-08T20:23:56Z
dc.date.available2006-09-08T20:23:56Z
dc.date.issued1987-06en_US
dc.identifier.citationDasouki, M.; Buchanan, D.; Mercer, N.; Gibson, K. M.; Thoene, J.; (1987). "3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction." Journal of Inherited Metabolic Disease 10(2): 142-146. <http://hdl.handle.net/2027.42/42492>en_US
dc.identifier.issn0141-8955en_US
dc.identifier.issn1573-2665en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/42492
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2443756&dopt=citationen_US
dc.description.abstractA female infant, born to first cousin parents, lapsed into coma with severe metabolic acidosis on day three of life. The gas chromatographic/mass spectrometric urinary organic acid profile showed marked elevation of the leucine metabolites 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxy-isovaleric acids. Less than 5% of the normal activity of the enzyme 3-hydroxy-3-methylglutaryl CoA lyase was detected in cultured skin fibroblasts. The patient's total and free carnitine was initially low but rose to normal levels after placing her on dl -carnitine (100 mg kg −1 d −1 ). On a diet providing 87 mg kg −1 d −1 of leucine and only 25% of total calories as fat and 2 g kg −1 d −1 protein, the concentration of the urinary organic acids fell markedly. She is now 15 months old with normal growth and development. This regimen appears effective in the early treatment of 3-hydroxy-3-methylglutaric aciduria.en_US
dc.format.extent366306 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherKluwer Academic Publishers; SSIEM and MTP Press Ltd ; Springer Science+Business Mediaen_US
dc.subject.otherMedicine & Public Healthen_US
dc.subject.otherHuman Geneticsen_US
dc.subject.otherInternal Medicineen_US
dc.subject.otherMetabolic Diseasesen_US
dc.subject.otherPediatricsen_US
dc.subject.otherBiochemistry, Generalen_US
dc.title3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restrictionen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelKinesiology and Sportsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, Division of Biochemical Genetics and Metabolism, University of Michigan, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, Division of Biochemical Genetics and Metabolism, University of Michigan, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumDepartment of Dietetics, Nutrition Services, University of Michigan, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, Division of Biochemical Genetics and Metabolism, University of Michigan, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationotherDepartment of Pediatrics, Division of Biochemical Genetics, University of California, San Diego, La Jolla, California, USAen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid2443756en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/42492/1/10545_2005_Article_BF01800039.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/BF01800039en_US
dc.identifier.sourceJournal of Inherited Metabolic Diseaseen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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