Abstract | BACKGROUND AND OBJECTIVES: Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years. METHODS: The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders. RESULTS: During the study period, 165,530 Saudi Arabian infants were born at Saudi Aramco and 248 were diagnosed with an IEM, corresponding to a cumulative incidence of 150 cases per 100,000 live births. Small-molecule disorders were diagnosed in 134/248 patients (54%). OA were the most common (48/248 patients; 19%), and methylmalonic aciduria was the most frequently observed OA (13/48 patients; 27%). LSDs were diagnosed in 74/248 patients (30%), and mucopolysaccharidosis was the most frequently observed LSD (28/74; 38%). CONCLUSION: We believe that our data underestimate the true incidence of IEM in the region. Regional and national newborn screening programs will provide a better estimation of the incidence of IEM. We recommend a centralized newborn screening program that employs tandem mass spectrometry.
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Authors | Hissa Moammar, George Cheriyan, Revi Mathew, Nouriya Al-Sannaa |
Journal | Annals of Saudi medicine
(Ann Saudi Med)
2010 Jul-Aug
Vol. 30
Issue 4
Pg. 271-7
ISSN: 0975-4466 [Electronic] Saudi Arabia |
PMID | 20622343
(Publication Type: Journal Article)
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Topics |
- Humans
- Incidence
- Infant, Newborn
- Metabolism, Inborn Errors
(diagnosis, epidemiology, physiopathology)
- Neonatal Screening
(methods)
- Retrospective Studies
- Saudi Arabia
(epidemiology)
- Tandem Mass Spectrometry
(methods)
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