3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction
dc.contributor.author | Dasouki, Majed | en_US |
dc.contributor.author | Buchanan, Douglas N. | en_US |
dc.contributor.author | Mercer, N. | en_US |
dc.contributor.author | Gibson, K. M. | en_US |
dc.contributor.author | Thoene, Jess G. | en_US |
dc.date.accessioned | 2006-09-08T20:23:56Z | |
dc.date.available | 2006-09-08T20:23:56Z | |
dc.date.issued | 1987-06 | en_US |
dc.identifier.citation | Dasouki, 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.issn | 0141-8955 | en_US |
dc.identifier.issn | 1573-2665 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/42492 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2443756&dopt=citation | en_US |
dc.description.abstract | A 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.extent | 366306 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Kluwer Academic Publishers; SSIEM and MTP Press Ltd ; Springer Science+Business Media | en_US |
dc.subject.other | Medicine & Public Health | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Pediatrics | en_US |
dc.subject.other | Biochemistry, General | en_US |
dc.title | 3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Kinesiology and Sports | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Division of Biochemical Genetics and Metabolism, University of Michigan, Ann Arbor, Michigan, USA | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Division of Biochemical Genetics and Metabolism, University of Michigan, Ann Arbor, Michigan, USA | en_US |
dc.contributor.affiliationum | Department of Dietetics, Nutrition Services, University of Michigan, Ann Arbor, Michigan, USA | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Division of Biochemical Genetics and Metabolism, University of Michigan, Ann Arbor, Michigan, USA | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Division of Biochemical Genetics, University of California, San Diego, La Jolla, California, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 2443756 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/42492/1/10545_2005_Article_BF01800039.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF01800039 | en_US |
dc.identifier.source | Journal of Inherited Metabolic Disease | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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