Document Detail

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients.
MedLine Citation:
PMID:  23226820     Owner:  NLM     Status:  PubMed-not-MEDLINE    
OBJECTIVE: This is a report on the types and patterns of inborn errors of metabolism (IEMs) of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years (1998-2008) at Sultan Qaboos University Hospital (SQUH), the major centre for diagnosis and management of IEM in Oman.
METHODS: Tandem mass spectrometry (MS/MS) was used in the initial screening and diagnosis of IEMs in high risk neonatal and pediatric populations.
RESULTS: Out of 1100 patients investigated, 119 were detected positive for IEM by MS/MS spectrometry. Twenty six different metabolic diseases were detected. Patients were categorized into three major groups: a) 54 with amino acids and urea cycle disorders, b) 35 with organic acid disorders, and c) 30 with fatty acid oxidation disorders. The commonest conditions encountered were maple syrup urine disease (MSUD), phenylketonuria (PKU), propionic and isovaleric acidurias, as well as HMG-CoA lyase deficiency and glutaric aciduria type II (GA-II). Most of these IEMs were over-represented in babies born to consanguineous parents, which is consistent with the recessive autosomal inheritance.
CONCLUSION: This study shows that various types of IEMs, reported elsewhere, were also prevalent in Oman, but the pattern of prevalence and distribution is different. The situation, therefore, warrants the development of a nationwide screening and prevention program.
Sulaiman Al Riyami; Matar Al Maney; Surendra Nath Joshi; Riad Bayoumi
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Oman medical journal     Volume:  27     ISSN:  1999-768X     ISO Abbreviation:  Oman Med J     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-12-11     Completed Date:  2012-12-12     Revised Date:  2013-05-30    
Medline Journal Info:
Nlm Unique ID:  101526350     Medline TA:  Oman Med J     Country:  Oman    
Other Details:
Languages:  eng     Pagination:  482-5     Citation Subset:  -    
Department of Biochemistry, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
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