{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:11:03Z","timestamp":1777356663233,"version":"3.51.4"},"reference-count":34,"publisher":"Hamad bin Khalifa University Press (HBKU Press)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,4,1]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Inborn errors of metabolism (IEM) are mostly transmitted as autosomal recessive disorders and are therefore more frequent in countries with high consanguinity rates such as in the Arab world.\n                    <jats:bold>Objective:<\/jats:bold>\n                    To study the socio-demographic characteristics and the clinical presentation of IEM in Libyan children and to shed light on our experience in dealing with these disorders.\n                    <jats:bold>Methods:<\/jats:bold>\n                    This is a descriptive case series hospital-based study of 107 children attending the Metabolic Unit at El-Khadra Teaching Hospital (MUKH) in Tripoli, Libya. The study took place between January 2001 and December 2012. Information was collected from caregivers and from all available hospital records on the following variables: age, sex, birth order, place of residence, age at onset, presenting complaints and family history of the same illness.\n                    <jats:bold>Results:<\/jats:bold>\n                    During the 12-year study period, there were 55,422 live births at El-Khadra Teaching Hospital and 107 children were diagnosed with 46 different metabolic disorders. A significantly high consanguinity rate was observed (86.9%) among parents of the affected children. Family history of previous affected children was noted in 63.5% of cases. Male to female ratio was 1.18:1. The most frequent IEM cases were amino acids disorders (25%), carbohydrate disorders (14.9%), lysosomal storage diseases (14%), organic aciduria and energy metabolic defects (9.3% each). The main clinical presentations were jaundice, hepatomegaly and seizures. Most children presented between one and six months of age (43.4%); whereas the median age at diagnosis was eight months. Thirty-eight children (35.5%) were born at El-Khadra Hospital with IEM giving a birth prevalence of 1:1458 live births, (1:6158 for aminoaciduria and 1:6927 for carbohydrate disorders).\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    IEM disorders are common in Libya. Efforts to enhance awareness among pediatricians and primary healthcare providers should be supported and encouraged as many diseases are still undiagnosed. It is very important to consider IEM among all children when they present any worrying or suspicious symptoms or signs which do not respond to conventional treatment. Although our findings are preliminary, and probably the first to be conducted in Libya, they suggest ideas for decision makers to plan services including newborn screening programs and country-wide research of IEM diseases.\n                  <\/jats:p>","DOI":"10.5339\/qmj.2013.18","type":"journal-article","created":{"date-parts":[[2015,2,2]],"date-time":"2015-02-02T02:09:48Z","timestamp":1422842988000},"source":"Crossref","is-referenced-by-count":9,"title":["Patterns of inborn errors of metabolism: A 12 year single-center hospital-based study in Libya"],"prefix":"10.5339","volume":"2013","author":[{"given":"Hanna","family":"AlObaidy","sequence":"first","affiliation":[{"name":"Tripoli University, Tripoli, Libya"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3277","reference":[{"key":"CIT0001","series-title":"Genetic disorders among Arab populations","first-page":"444","article-title":"Genetic disorders in Libya","author":"Ben Omran\n\u00a0\nT","year":"2010"},{"issue":"1","key":"CIT0002","series-title":"JMJ","first-page":"48","article-title":"Perinatal Mortality and Morbidity at Elkhadra Hospital Tripoli Libya","volume":"3","author":"Alobaidy\n\u00a0\nH","year":"2004"},{"issue":"11","key":"CIT0003","series-title":"East Mediterr Health J","first-page":"1137","article-title":"Mortality in the special care baby unit of the main children's hospital in Tripoli Libyan Arab Jamahiriya","volume":"16","author":"Abushhaiwia\n\u00a0\nAME","year":"2010"},{"key":"CIT0004","unstructured":"Social Indicators. United Nation Statistical Division. (Internet). Update June 2011. Available from: http:\/\/unstats.un.org\/unsd\/demographic\/products\/socind\/health.htm\n\n."},{"key":"CIT0005","series-title":"Garyounis Med J","first-page":"3","article-title":"Consanguinity and congenital abnormalities in East Libya","volume":"4","author":"Broadhead\n\u00a0\nRL","year":"1981"},{"key":"CIT0006","series-title":"J Inherit Metab Dis","first-page":"205","article-title":"Expanded newborn screening: reducing harm, asserting benefit","volume":"33","author":"Wilcken\n\u00a0\nB","year":"2010"},{"key":"CIT0007","series-title":"J Inherit Metab Dis","first-page":"482","article-title":"Newborn screening: Experiences in the Middle East and North Africa","volume":"30","author":"Saadallah\n\u00a0\nAA","year":"2007"},{"key":"CIT0008","series-title":"Genet Med","first-page":"1","article-title":"Conference report: Second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities","volume":"9","author":"Krotoski\n\u00a0\nD","year":"2009"},{"issue":"3","key":"CIT0009","series-title":"Med Princ Pract","first-page":"215","article-title":"Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants","volume":"16","author":"Abdel-Hamid\n\u00a0\nM","year":"2007"},{"key":"CIT0010","series-title":"Tunis Med","first-page":"259","article-title":"Aminoacidopathies and organic aciduria in Tunisia: a retrospective survey over 23 years","volume":"90","author":"Hadg-Taieb\n\u00a0\nS","year":"2012"},{"issue":"21","key":"CIT0011","series-title":"BMJ","first-page":"831","article-title":"Genetic disorders in the Arab world","volume":"333","author":"Al-Gazali\n\u00a0\nL","year":"2006"},{"key":"CIT0012","unstructured":"Olayiwola N. \/Staff Reporter. Neonatal screening \u2018helps prevent impaired growth\u2019 [Newborn screening in India web site]. Available at: http:\/\/ www.NeoGenLabs.com, posted by Neha on November 2, 2012\n."},{"issue":"4","key":"CIT0013","series-title":"Ann Saudi Med","first-page":"271","article-title":"Incidence and patterns of inborn errors of metabolism in the Eastern province of Saudi Arabia, 1983\u20132008","volume":"30","author":"Moammar\n\u00a0\nH","year":"2010"},{"key":"CIT0014","series-title":"Ann Trop Peadiat","first-page":"93","article-title":"Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula","volume":"22","author":"Joshi\n\u00a0\nSN","year":"2002"},{"key":"CIT0015","series-title":"J Appl Sci Res","first-page":"1425","article-title":"Preliminary results of Egypt experience for use of Tandem Mass Spectrometry for expanded metabolic screening","volume":"5","author":"Hassan\n\u00a0\nF","year":"2009"},{"issue":"6","key":"CIT0016","series-title":"Pediatrics","first-page":"1487","article-title":"The contribution of withholding or withdrawing care to newborn mortality","volume":"116","author":"Barton\n\u00a0\nL","year":"2005"},{"issue":"suppl 3","key":"CIT0017","series-title":"Southeast Asian J Trop Med public health","first-page":"19","article-title":"Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan","volume":"34","author":"Aoki\n\u00a0\nK","year":"2003"},{"key":"CIT0001","series-title":"Genetic disorders among Arab populations","first-page":"444","article-title":"Genetic disorders in Libya","author":"Ben Omran\n\u00a0\nT","year":"2010"},{"issue":"1","key":"CIT0002","series-title":"JMJ","first-page":"48","article-title":"Perinatal Mortality and Morbidity at Elkhadra Hospital Tripoli Libya","volume":"3","author":"Alobaidy\n\u00a0\nH","year":"2004"},{"issue":"11","key":"CIT0003","series-title":"East Mediterr Health J","first-page":"1137","article-title":"Mortality in the special care baby unit of the main children's hospital in Tripoli Libyan Arab Jamahiriya","volume":"16","author":"Abushhaiwia\n\u00a0\nAME","year":"2010"},{"key":"CIT0004","unstructured":"Social Indicators. United Nation Statistical Division. (Internet). Update June 2011. Available from: http:\/\/unstats.un.org\/unsd\/demographic\/products\/socind\/health.htm\n\n."},{"key":"CIT0005","series-title":"Garyounis Med J","first-page":"3","article-title":"Consanguinity and congenital abnormalities in East Libya","volume":"4","author":"Broadhead\n\u00a0\nRL","year":"1981"},{"key":"CIT0006","series-title":"J Inherit Metab Dis","first-page":"205","article-title":"Expanded newborn screening: reducing harm, asserting benefit","volume":"33","author":"Wilcken\n\u00a0\nB","year":"2010"},{"key":"CIT0007","series-title":"J Inherit Metab Dis","first-page":"482","article-title":"Newborn screening: Experiences in the Middle East and North Africa","volume":"30","author":"Saadallah\n\u00a0\nAA","year":"2007"},{"key":"CIT0008","series-title":"Genet Med","first-page":"1","article-title":"Conference report: Second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities","volume":"9","author":"Krotoski\n\u00a0\nD","year":"2009"},{"issue":"3","key":"CIT0009","series-title":"Med Princ Pract","first-page":"215","article-title":"Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants","volume":"16","author":"Abdel-Hamid\n\u00a0\nM","year":"2007"},{"key":"CIT0010","series-title":"Tunis Med","first-page":"259","article-title":"Aminoacidopathies and organic aciduria in Tunisia: a retrospective survey over 23 years","volume":"90","author":"Hadg-Taieb\n\u00a0\nS","year":"2012"},{"issue":"21","key":"CIT0011","series-title":"BMJ","first-page":"831","article-title":"Genetic disorders in the Arab world","volume":"333","author":"Al-Gazali\n\u00a0\nL","year":"2006"},{"key":"CIT0012","unstructured":"Olayiwola N. \/Staff Reporter. Neonatal screening \u2018helps prevent impaired growth\u2019 [Newborn screening in India web site]. Available at: http:\/\/ www.NeoGenLabs.com, posted by Neha on November 2, 2012\n."},{"issue":"4","key":"CIT0013","series-title":"Ann Saudi Med","first-page":"271","article-title":"Incidence and patterns of inborn errors of metabolism in the Eastern province of Saudi Arabia, 1983\u20132008","volume":"30","author":"Moammar\n\u00a0\nH","year":"2010"},{"key":"CIT0014","series-title":"Ann Trop Peadiat","first-page":"93","article-title":"Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula","volume":"22","author":"Joshi\n\u00a0\nSN","year":"2002"},{"key":"CIT0015","series-title":"J Appl Sci Res","first-page":"1425","article-title":"Preliminary results of Egypt experience for use of Tandem Mass Spectrometry for expanded metabolic screening","volume":"5","author":"Hassan\n\u00a0\nF","year":"2009"},{"issue":"6","key":"CIT0016","series-title":"Pediatrics","first-page":"1487","article-title":"The contribution of withholding or withdrawing care to newborn mortality","volume":"116","author":"Barton\n\u00a0\nL","year":"2005"},{"issue":"suppl 3","key":"CIT0017","series-title":"Southeast Asian J Trop Med public health","first-page":"19","article-title":"Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan","volume":"34","author":"Aoki\n\u00a0\nK","year":"2003"}],"container-title":["Qatar Medical Journal"],"original-title":[],"link":[{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2013\/2\/article-18.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2013\/2\/article-18.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2013\/2\/article-18.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:15:07Z","timestamp":1777310107000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2013\/2\/article-18.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,1]]},"references-count":34,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.5339\/qmj.2013.18","relation":{},"ISSN":["2227-0426"],"issn-type":[{"value":"2227-0426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,1]]}}}