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    
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.
Brad Angle; Barbara K Burton
Related Documents :
22157844 - Effect of remote ischaemic preconditioning on ischaemic-reperfusion injury in pulmonary...
12472914 - Sudden cardiac death in 15-35-year olds in sweden during 1992-99.
17977044 - Risk of sudden death and acute life-threatening events in patients with glutaric acidem...
17714544 - Effect of pacifier use on mandibular position in preterm infants.
12671174 - Evidence-based approach to change in clinical practice: introduction of expanded nasal ...
9872134 - Gender distinctions and lateral asymmetry in the low-level auditory brainstem response ...
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    
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Acute Disease
Death, Sudden / etiology*
Electron-Transferring Flavoproteins / genetics
Fatal Outcome
Genetic Testing
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
Reg. No./Substance:
0/Electron-Transferring Flavoproteins; 0/Iron-Sulfur Proteins; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC dehydrogenase
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

Previous Document:  Effect of temporal and geographical factors on fatty acid composition of M. galloprovincialis from t...
Next Document:  Typical medullary carcinoma of the breast: a retrospective study about 33 cases