Document Detail

Maternal glutaric acidemia, type I identified by newborn screening.
MedLine Citation:
PMID:  18304851     Owner:  NLM     Status:  MEDLINE    
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.
Eric A Crombez; Stephen D Cederbaum; Elaine Spector; Erica Chan; Denise Salazar; Julie Neidich; Stephen Goodman
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2008-03-04
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  94     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-21     Completed Date:  2008-07-21     Revised Date:  2014-09-08    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  132-4     Citation Subset:  IM    
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / diagnosis*
Carnitine / analogs & derivatives,  blood
Glutarates / metabolism*
Glutaryl-CoA Dehydrogenase / deficiency,  genetics*
Infant, Newborn
Neonatal Screening*
Grant Support
5 P30 HD004024-35/HD/NICHD NIH HHS; HD-04612/HD/NICHD NIH HHS; P30 HD004612/HD/NICHD NIH HHS; P30 HD004612-29/HD/NICHD NIH HHS
Reg. No./Substance:
0/Glutarates; 109006-11-3/glutarylcarnitine; 541-15-1/Carnitine; EC Dehydrogenase; H849F7N00B/glutaric acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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