Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula

Annals of Tropical Paediatrics
S N JoshiP Venugopalan

Abstract

We analysed all patients < 18 years of age diagnosed with inborn errors of metabolism (IEM) in the Metabolic Division, Sultan Qaboos University Hospital, Muscat, Oman from June 1998 to December 2000. A total of 82 patients from 76 families were studied, of whom 33 (40%) were aged < 1 week at presentation. Disorders identified included different lysosomal storage disorders (22), organic acidurias (9), carbohydrate metabolic disorders (9), congenital lactic acidosis (9), urea cycle disorders (8), amino acidopathies (8), fatty acid oxidation defects (7/82) and various other miscellaneous disorders (10). Tandem mass spectrometry helped in the diagnosis of 26 (32%) cases. Parental consanguinity was twice as frequent in the study patients as in the general population. Duration of follow-up ranged from 1 to 30 months (median 15) during which time 46/56 (82%) patients with disorders amenable to specific dietary and drug therapy available in Oman were free from frequent exacerbation. Our study shows the relevance of identifying patients with IEM in Oman and the need to establish screening for the conditions identified and provide effective management protocols.

References

Aug 1, 1995·Journal of Medical Genetics·M A el-HazmiA A al-Meshari
Jan 5, 2000·Pediatrics·D A ApplegarthR B Lowry
Jun 2, 2000·Annals of Human Biology·A Rajab, M A Patton
Jan 4, 2001·Pediatric Emergency Care·M CalvoM Pineda
Mar 8, 2007·Annals of Saudi Medicine·P T Ozand

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Citations

Aug 19, 2007·Journal of Inherited Metabolic Disease·A A Saadallah, M S Rashed
Nov 24, 2011·Genetic Testing and Molecular Biomarkers·Imen Ben-RebehBassam R Ali
Feb 23, 2007·Brain & Development·Surendra Nath Joshi, Poothirikovil Venugopalan
Apr 14, 2015·Gene·Hatem Zayed
Mar 13, 2014·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Amira MasriAlireza Haghighi
Jul 14, 2010·Annals of Saudi Medicine·Hissa MoammarNouriya Al-Sannaa
Apr 11, 2018·Orphanet Journal of Rare Diseases·Tamás ZeleiCsaba Siffel
Jul 19, 2002·Prenatal Diagnosis
Apr 6, 2007·Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre·Mohammed Abdel-HamidDina Ramadan
Oct 5, 2017·Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo·Andressa RomãoFrancisca Ligia Cirilo Carvalho
Jul 17, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Weijing KongYan Meng

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