Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism

Details

Serval ID
serval:BIB_190D9A6441AD
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism
Journal
Seminars in Perinatology
Author(s)
Burlina  A. B., Bonafe  L., Zacchello  F.
ISSN
0146-0005
Publication state
Published
Issued date
04/1999
Peer-reviewed
Oui
Volume
23
Number
2
Pages
162-73
Notes
Journal Article
Review --- Old month value: Apr
Abstract
Disorders of amino acid and organic acid metabolism collectively represent a group of over 70 inherited diseases that are most frequently encountered in the neonatal period. A neonate with clinical symptoms caused by one of these disorders is a real clinical emergency, a situation complicated by the similarities to the manifestations seen in sepsis or asphyxia. Delay of diagnosis and proper treatment often results in severe morbidity and high mortality. The vast majority of these patients are likely to be transferred to a neonatal intensive care unit, suggesting that amino acid and organic acid biochemical screenings should be performed in these newborns routinely at admission. The analysis of amino acids and acylcarnitines in blood spots by tandem mass spectrometry has the potential to significantly improve the morbidity and mortality rates of metabolic disorders with neonatal presentation. In the case of disorders lacking an effective treatment, an early diagnosis could lead to proper genetic counseling of the parents and to the option of reliable prenatal diagnosis of future pregnancies. This review offers an updated summary of the clinical, biochemical, and therapeutic features of the aminoacidopathies and organic acidurias most likely to be encountered in neonatal clinical practice.
Keywords
Amino Acid Metabolism, Inborn Errors/*diagnosis/genetics/*therapy Ammonia/blood Humans Infant, Newborn Ketosis Nervous System/physiopathology
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 12:49
Usage data