| Maternal glutaric acidemia, type I identified by newborn screening. | |
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MedLine Citation:
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PMID: 18304851 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report two women with glutaric acidemia type I in whom the diagnosis was unsuspected until a low carnitine level was found in their newborn children. Both mothers had low carnitine in plasma. In the first, organic acid analysis was only done after fibroblast studies revealed normal carnitine uptake. Having learned from the first family, organic acid analysis was done immediately in the mother of family 2. In both, the plasma acylcarnitine profile was normal but both excreted the metabolites typical of their disorder. One of the women was a compound heterozygote for distinct mutations in the glutaric acid dehydrogenase gene, whereas the second was either homozygous or hemizygous for a mutation in Exon 6 of the gene. |
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Authors:
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Eric A Crombez; Stephen D Cederbaum; Elaine Spector; Erica Chan; Denise Salazar; Julie Neidich; Stephen Goodman |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2008-03-04 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 94 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2008 May |
Date Detail:
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Created Date: 2008-04-21 Completed Date: 2008-07-21 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 132-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of California, Los Angeles, CA 90095-1752, USA. |
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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diagnosis* Carnitine / analogs & derivatives, blood Female Glutarates / metabolism* Glutaryl-CoA Dehydrogenase / deficiency, genetics* Humans Infant, Newborn Mutation Neonatal Screening* |
| Grant Support | |
ID/Acronym/Agency:
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5 P30 HD004024-35/HD/NICHD NIH HHS; HD-04612/HD/NICHD NIH HHS; P30 HD004612-29/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 109006-11-3/glutarylcarnitine; 110-94-1/glutaric acid; 541-15-1/Carnitine; EC 1.3.99.7/Glutaryl-CoA Dehydrogenase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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