Document Detail


Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?
MedLine Citation:
PMID:  17537659     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The prenatal diagnosis of two subsequent pregnancies of the mother of a patient homozygous for a mutation in the L-2-hydroxyglutarate dehydrogenase gene is described. In the first pregnancy, measurement of L-2-hydroxyglutaric acid in amniotic fluid revealed an affected fetus. This pregnancy was terminated. In the prenatal diagnosis of the second pregnancy, mutational analysis was also included and proved to be of pivotal importance. Despite mildly increased levels of L-2-hydroxyglutaric acid in the amniotic fluid, the fetus was heterozygous for this mutation thus excluding L-2-HGA.
Authors:
P Augoustides-Savvopoulou; G S Salomons; J Dotis; E Roilides; M Leontsini; C Jakobs; C Panteliadis
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-05-29
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  91     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2007 Aug 
Date Detail:
Created Date:  2007-07-16     Completed Date:  2007-10-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  399-401     Citation Subset:  IM    
Affiliation:
1st Department of Pediatrics, Metabolic Laboratory, Hippocration General Hospital, Aristotle University of Thessaloniki, Thessaloniki 546 42, Greece. persefon@med.auth.gr
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MeSH Terms
Descriptor/Qualifier:
Abortion, Induced
Amniocentesis
Brain / pathology
DNA Mutational Analysis*
Female
Glutarates / urine*
Humans
Magnetic Resonance Imaging
Pregnancy
Prenatal Diagnosis
Chemical
Reg. No./Substance:
0/Glutarates; 2889-31-8/alpha-hydroxyglutarate

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


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