Inborn Errors of Metabolism Status in Iraq:
Journal Title: IOSR Journal of Pharmacy and Biological Sciences (IOSR-JPBS) - Year 2016, Vol 11, Issue 2
Abstract
Background and Objectives:- Inborn errors of metabolism(IEM) are genetically inherited diseases ,though individually rare, together they constitute a significant percentage of children presenting with acute problems. Diagnosis and follow up of IEM is integrated in several developed countries basic health care packages. This service is still limited in many developing countries including Iraq. Aim: We aimed to create awareness in the medical sectors about the existence and magnitude of the problem of IEM, to take steps towards setting the proper requirements for diagnosis of metabolic disorders, including neonatal screening program . Methods:This is both a prospective-retrospective study that included 1758patients with clinical manifestations suggestive of IEM collected from two major hospitals in Baghdad ,the Child Welfare Teaching Hospital(CWTH) and Al-Emamain AL Kadhemyian teaching hospital , in the period between the first of September 2009 and the first of September 2012.Filter paper blood samples were sent by fast mailing to Newborn Screening Laboratory/Saint Joseph University, Beirut, Lebanon. Samples were processed using tandem mass spectrophotometry(MS/MS),results analyzed and interpreted and sent back through net. Results :Among 1758 samples analyzed ,females were 721(41%). Children below one year of age constituted 987(56%) including 164(9.3%)neonates , those between one year to five years were 606(34%),and ages > five years were 165(9.3%). Two hundred twenty four cases were identified and confirmed tohave IEM (12.7%). Ages below one year of age constituted 148(66%), ages > one year up to 5 years were 62(27.5%) and those> 5 years of age were14 (6%). The metabolic disorders diagnosed were ,amino acid disorders 86(4.9%) ,mitochondrial disorders (fatty acids oxidation disorders and organicacidemias)were36(2%), glucose 6phosphate dehydrogenase deficiency 66(3.75%) ,carbohydrate metabolism disorders were 31 cases(1.76%), and endocrine disorders ( congenital hypothyroidism) were 5(0.2%).One hundred seventy four (9.8%) cases had positive consanguineous marriage between father and mother ,while 132(7.5%) cases had positive history of a similar condition in the family or history of sudden infant death. Conclusions:-Amino acids disorders, fatty acids oxidation disorders and G6PDD are the most common metabolic disorders in the studied sample. The positive consanguinity and positive family history played important role in evolution of the suspicion of IEM in the patients.
Authors and Affiliations
Dr Hala S. Arif1, Dr Rabab F. Thejeal, Dr Ahmed Farhan.
Keywords
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- EP ID EP383500
- DOI 10.9790/3008-1102025862
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