| Screening for defects of branched-chain amino acid metabolism. | |
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MedLine Citation:
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PMID: 7957389 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Screening for defects of branched-chain amino acid metabolism is a sequential process involving clinical evaluation of the patient, plasma carnitine determination, urinary organic acid analysis, and enzyme studies in cultured or isolated peripheral cells. This report will summarize clinical and metabolite features and enzymological methods available for the diagnosis of the more common defects of branched-chain amino acid metabolism, including isovaleryl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylglutaconic aciduria due to 3-methylglutaconyl-CoA hydratase deficiency and other less well characterized defects, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 2-methylacetoacetyl-CoA thiolase deficiency. Newer enzymatic methodologies utilizing NaH14CO3 fixation coupled assays are described which allow for the estimation of six enzyme activities in the catabolic pathways of L-leucine and L-isoleucine catabolism. These coupled assays facilitate the rapid identification of five of the six enzyme abnormalities described above. Their ease of use should allow them to be implemented in any laboratory which screens for inborn errors of metabolism. |
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Authors:
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K M Gibson; C F Lee; G F Hoffmann |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: European journal of pediatrics Volume: 153 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1994 |
Date Detail:
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Created Date: 1994-12-27 Completed Date: 1994-12-27 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY |
Other Details:
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Languages: eng Pagination: S62-7 Citation Subset: IM |
Affiliation:
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Metabolic Disease Center, Baylor University Medical Center, Dallas, TX 75226. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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prevention & control* Amino Acids, Branched-Chain / metabolism* Humans Mass Screening* |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids, Branched-Chain |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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