| Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. | |
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MedLine Citation:
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PMID: 3082934 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We studied two patients with 3-methylglutaconic aciduria in order to determine the molecular defect. A new assay for 3-methylglutaconyl-coenzyme A (CoA) hydratase has been developed in which the substrate, [5-14C]3-methylglutaconyl-CoA, was synthesized using 3-methylcrotonyl-CoA carboxylase purified from bovine kidney. In this assay the products of the reaction are isolated by reverse-phase high performance liquid chromatography and the rates of conversion from substrate are measured. The Michaelis constant for 3-methylglutaconyl-CoA in normal fibroblasts was 6.9 mumol/liter. The mean activity of 3-methylglutaconyl-CoA hydratase in control fibroblasts was 495 pmol/min per mg protein. In the two patients the values were 11 and 17 pmol/min per mg protein, or 2-3% of normal. |
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Authors:
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K Narisawa; K M Gibson; L Sweetman; W L Nyhan; M Duran; S K Wadman |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: The Journal of clinical investigation Volume: 77 ISSN: 0021-9738 ISO Abbreviation: J. Clin. Invest. Publication Date: 1986 Apr |
Date Detail:
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Created Date: 1986-05-14 Completed Date: 1986-05-14 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 7802877 Medline TA: J Clin Invest Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1148-52 Citation Subset: AIM; IM |
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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enzymology*,
urine Animals Cattle Chromatography, High Pressure Liquid Glutarates / urine* Humans Hydro-Lyases / deficiency* Hydrogen-Ion Concentration Kinetics Male Menotropins / metabolism |
| Grant Support | |
ID/Acronym/Agency:
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GM 17702/GM/NIGMS NIH HHS; HD 04608/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 5746-90-7/3-methylglutaconic acid; 61489-71-2/Menotropins; EC 4.2.1.-/Hydro-Lyases; EC 4.2.1.18/methylglutaconyl-CoA hydratase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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