Document Detail


Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
MedLine Citation:
PMID:  17977044     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Glutaric acidemia type II (GAII) is an inborn error of metabolism caused by defects in electron transport flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO) and typically presents with hypo- or nonketotic hypoglycemia and metabolic acidosis. The most severe forms present in early infancy and are associated with a high mortality rate. The disorder can now be detected by expanded newborn screening using tandem mass spectrometry (MS/MS), providing the opportunity for diagnosis and treatment in asymptomatic infants. We report here three infants who, despite diagnosis and treatment in the neonatal period, experienced either unexpected sudden death or an acute life-threatening event (ALTE) during the first year of life. The possible etiologies of these events and the potential impact of expanded newborn screening on the long-term outcome of GAII are discussed.
Authors:
Brad Angle; Barbara K Burton
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-10-31
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  93     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2007-12-17     Completed Date:  2008-04-10     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  36-9     Citation Subset:  IM    
Affiliation:
Division of Birth Defects and Metabolism, Department of Pediatrics, Children's Memorial Hospital, Northwestern University, Feinberg School of Medicine, 2300 Children's Plaza, Chicago, IL 60614, USA. bangle@childrensmemorial.org
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MeSH Terms
Descriptor/Qualifier:
Acute Disease
Death, Sudden / etiology*
Electron-Transferring Flavoproteins / genetics
Fatal Outcome
Genetic Testing
Humans
Infant
Infant, Newborn
Iron-Sulfur Proteins / genetics
Multiple Acyl Coenzyme A Dehydrogenase Deficiency / complications*,  genetics
Neonatal Screening
Oxidoreductases Acting on CH-NH Group Donors / genetics
Risk Factors
Chemical
Reg. No./Substance:
0/Electron-Transferring Flavoproteins; 0/Iron-Sulfur Proteins; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC 1.5.5.1/electron-transferring-flavoprotein dehydrogenase
Comments/Corrections
Comment In:
Mol Genet Metab. 2008 Jan;93(1):5-6   [PMID:  17988913 ]

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


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