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Ann Saudi Med. 2010 Jul-Aug;30(4):271-7. doi: 10.4103/0256-4947.65254.

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008.

Author information

1
Department of Pediatrics, King Faisal University, Dhahran, Saudi Arabia. hissa-moammar@yahoo.com

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.

PMID:
20622343
PMCID:
PMC2931777
DOI:
10.4103/0256-4947.65254
[Indexed for MEDLINE]
Free PMC Article

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