AUB ScholarWorks

Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience

Show simple item record Karam P.E. Habbal M.-Z. Mikati M.A. Zaatari G.E. Cortas N.K. Daher R.T.
dc.contributor.editor 2013 2017-10-05T16:01:20Z 2017-10-05T16:01:20Z 2013
dc.identifier 10.1016/j.clinbiochem.2013.08.009
dc.identifier.issn 00099120
dc.description.abstract Background: Diagnosis of aminoacidopathies and organic acidemias constitutes a real challenge in a developing country with high consanguinity rate and no systematic newborn screening. We report a twelve-year experience with the identification of these disorders in Lebanon, based on their clinical and biochemical profiles. Methods: In this retrospective study, we reviewed clinical presentation and biochemical investigations of 294 patients. Traditional chromatographic methods were used for analyses. Findings were linked to the identified disorders. Results: Out of 2921 patients, presenting to our metabolic program with neurological, digestive, family history and-or other symptoms suggestive of aminoacidopathy or organic acidemia, 294 patients were included with confirmed amino or organic acid disorder. The overall analytical yield was 10percent. Aminoacidopathies were three-fold higher than organic acidemias. Phenylketonuria and methylmalonic acidemia were the most frequent. The majority of patients (79percent) were symptomatic (median age: 14. months, range: 1. day-44. years), mainly with neurological manifestations (87percent). Intellectual disability was mostly due to phenylketonuria (73percent). Chronic liver failure was frequent in maple syrup urine disease (53percent). Plasma amino and urine organic acid chromatography were diagnostic in 8.8percent and 3.9percent of analyzed cases, respectively. Change in chromatographic technique from reversed-phase to ion-exchange enhanced the detection of many aminoacidopathies. Conclusions: In the absence of newborn screening, the majority of aminoacidopathy and organic acidemia cases are still diagnosed clinically. This study emphasizes the importance of clinical awareness and accurate biochemical analyses as key tools for diagnosis in countries like ours, and the necessity for a comprehensive national newborn screening program. © 2013 The Canadian Society of Clinical Chemists.
dc.format.extent Pages: (1787-1792)
dc.language English
dc.publisher OXFORD
dc.relation.ispartof Publication Name: Clinical Biochemistry; Publication Year: 2013; Volume: 46; no. 18; Pages: (1787-1792);
dc.source Scopus
dc.title Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience
dc.type Article
dc.contributor.affiliation Karam, P.E., Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Habbal, M.-Z., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Mikati, M.A., Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon, Division of Child Neurology, Duke University Medical Center, Durham, NC, United States
dc.contributor.affiliation Zaatari, G.E., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Cortas, N.K., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Daher, R.T., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.authorAddress Daher, R.T.; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236, Beirut 1107-2020, Lebanon; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Pediatrics and Adolescent Medicine;
dc.contributor.authorDepartment Pediatrics and Adolescent Medicine
dc.contributor.faculty Faculty of Medicine
dc.contributor.authorInitials Karam, PE
dc.contributor.authorInitials Habbal, MZ
dc.contributor.authorInitials Mikati, MA
dc.contributor.authorInitials Zaatari, GE
dc.contributor.authorInitials Cortas, NK
dc.contributor.authorInitials Daher, RT
dc.contributor.authorReprintAddress Daher, RT (reprint author), Amer Univ Beirut, Med Ctr, Dept Pathol and Lab Med, POB 11-0236, Beirut 11072020, Lebanon.
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited Al Ali Taleb M, 2006, GENETIC DISORDERS AR, P54; Al-Gazali L, 2006, BRIT MED J, V333, P831, DOI 10.1136-bmj.38982.704931.AE; [Anonymous], 2007, TUN COUNTR PROGR DOC; Burlina AB, 1999, SEMIN PERINATOL, V23, P162, DOI 10.1016-S0146-0005(99)80048-2; Cerone R, 1998, P 8 NAT C NEON SCREE; Daher R, 2003, ANN SAUDI MED, V23, P16; Der Kaloustian VM, 2010, GENETIC DISORDERS AMONG ARAB POPULATIONS, SECOND EDITION, P377, DOI 10.1007-978-3-642-05080-0_13; Dionisi-Vici C, 2002, J PEDIATR, V140, P321, DOI 10.1067-mpd.2002.122394; Ellaway CJ, 2002, J PAEDIATR CHILD H, V38, P511, DOI 10.1046-j.1440-1754.2002.00047.x; GODEL H, 1984, J CHROMATOGR, V297, P49, DOI 10.1016-S0021-9673(01)89028-2; Hadj-Taieb Sameh, 2012, Tunis Med, V90, P258; Hori D, 2005, BRAIN DEV-JPN, V27, P39, DOI 10.1016-j.braindev.2004.04.004; Joshi SN, 2002, ANN TROP PAEDIATR, V22, P93, DOI 10.1179-027249302125000238; Karam PE, 2011, J CHILD NEUROL, V26, P142, DOI 10.1177-0883073810375116; Khemir S, 2011, CLIN NEUROL NEUROSUR, V113, P727, DOI 10.1016-j.clineuro.2011.07.016; Khneisser I, 2008, J INHERIT METAB DIS, V31, pS441, DOI 10.1007-s10545-008-1008-5; LeBoucher J, 1997, CLIN CHEM, V43, P1421; Lee SH, 1998, J CHROMATOGR B, V719, P1, DOI 10.1016-S0378-4347(98)00388-0; Moammar H, 2010, ANN SAUDI MED, V30, P271, DOI 10.4103-0256-4947.65254; Narayan SB, 2011, CLIN CHEM LAB MED, V49, P1177, DOI 10.1515-CCLM.2011.200; Saudubray JM, 2012, INBORN METABOLIC DIS, P3; Schadewaldt P, 1999, CLIN CHEM, V45, P1734; Scriver CL, 2001, METABOLIC MOL BASES; SHIH VE, 1991, CLIN BIOCHEM, V24, P301, DOI 10.1016-0009-9120(91)80004-M; Tadmouri Ghazi O, 2009, Reprod Health, V6, P17, DOI 10.1186-1742-4755-6-17; The world factbook, WORLD FACTB; Wajner M, 2009, CLIN CHIM ACTA, V400, P77, DOI 10.1016-j.cca.2008.10.007; Wasant P, 2008, CLIN CHIM ACTA, V392, P63, DOI 10.1016-j.cca.2008.02.015; Waterval WAH, 2009, CLIN CHIM ACTA, V407, P36, DOI 10.1016-j.cca.2009.06.023; Wilcken B, 2003, NEW ENGL J MED, V348, P2304, DOI 10.1056-NEJMoa025225; YADAV GC, 1988, J INHERIT METAB DIS, V11, P277, DOI 10.1007-BF01800370; Yalaz K, 2006, J CHILD NEUROL, V21, P987, DOI 10.2310-7010.2006.00228
dc.description.citedCount 1
dc.description.citedTotWOSCount 1
dc.description.citedWOSCount 1
dc.format.extentCount 6
dc.identifier.coden CLBIA
dc.identifier.pubmedID 23994778
dc.identifier.scopusID 84889646044
dc.relation.ispartOfISOAbbr Clin. Biochem.
dc.relation.ispartOfIssue 18
dc.relation.ispartofPubTitle Clinical Biochemistry
dc.relation.ispartofPubTitleAbbr Clin. Biochem.
dc.relation.ispartOfVolume 46
dc.source.ID WOS:000328596200003
dc.type.publication Journal
dc.subject.otherAuthKeyword Amino acid chromatography
dc.subject.otherAuthKeyword Aminoacidopathies
dc.subject.otherAuthKeyword Inborn errors of metabolism
dc.subject.otherAuthKeyword Newborn screening
dc.subject.otherAuthKeyword Organic acid chromatography
dc.subject.otherAuthKeyword Organic acidemias
dc.subject.otherIndex acidemia
dc.subject.otherIndex acute liver failure
dc.subject.otherIndex adolescent
dc.subject.otherIndex adult
dc.subject.otherIndex alkaptonuria
dc.subject.otherIndex amino acid analysis
dc.subject.otherIndex aminoacidopathy
dc.subject.otherIndex article
dc.subject.otherIndex Canavan disease
dc.subject.otherIndex child
dc.subject.otherIndex chromatography
dc.subject.otherIndex chronic liver failure
dc.subject.otherIndex citrullinemia
dc.subject.otherIndex family history
dc.subject.otherIndex female
dc.subject.otherIndex histidinemia
dc.subject.otherIndex homocystinuria
dc.subject.otherIndex human
dc.subject.otherIndex hyperammonemia
dc.subject.otherIndex hyperargininemia
dc.subject.otherIndex hyperglycinemia
dc.subject.otherIndex hyperlysinemia
dc.subject.otherIndex hyperornithinemia
dc.subject.otherIndex hyperprolinemia
dc.subject.otherIndex infant
dc.subject.otherIndex intellectual impairment
dc.subject.otherIndex ion exchange chromatography
dc.subject.otherIndex ketoacidosis
dc.subject.otherIndex lactic acidosis
dc.subject.otherIndex major clinical study
dc.subject.otherIndex male
dc.subject.otherIndex maple syrup urine disease
dc.subject.otherIndex metabolic acidosis
dc.subject.otherIndex methylmalonic acidemia
dc.subject.otherIndex multiple acyl CoA dehydrogenase deficiency
dc.subject.otherIndex newborn screening
dc.subject.otherIndex ornithine transcarbamylase deficiency
dc.subject.otherIndex phenylketonuria
dc.subject.otherIndex preschool child
dc.subject.otherIndex priority journal
dc.subject.otherIndex propionic acidemia
dc.subject.otherIndex retrospective study
dc.subject.otherIndex school child
dc.subject.otherIndex tyrosinemia
dc.subject.otherIndex 2-hydroxyglutaric aciduria
dc.subject.otherIndex 2HGA
dc.subject.otherIndex 6-PTS
dc.subject.otherIndex 6-pyruvoyl- tetrahydrobiopterin synthase
dc.subject.otherIndex AA
dc.subject.otherIndex American University of Beirut Medical Center
dc.subject.otherIndex Amino acid chromatography
dc.subject.otherIndex aminoacidopathies
dc.subject.otherIndex Aminoacidopathies
dc.subject.otherIndex AUBMC
dc.subject.otherIndex Cb1 a-d
dc.subject.otherIndex Cb1 b
dc.subject.otherIndex cerebrospinal fluid (CSF)
dc.subject.otherIndex cobalamin a-d deficiency
dc.subject.otherIndex cobalamin b deficiency
dc.subject.otherIndex CSF
dc.subject.otherIndex D
dc.subject.otherIndex days
dc.subject.otherIndex DHPR
dc.subject.otherIndex dihydropteridine reductase
dc.subject.otherIndex GA II
dc.subject.otherIndex gas chromatography mass spectrometry
dc.subject.otherIndex GC-MS
dc.subject.otherIndex glutaric aciduria type II
dc.subject.otherIndex GTP
dc.subject.otherIndex guanosine 5 triphosphate cyclohydrolase
dc.subject.otherIndex HCY
dc.subject.otherIndex high performance liquid chromatography
dc.subject.otherIndex homocystinuria
dc.subject.otherIndex HPLC
dc.subject.otherIndex IEM
dc.subject.otherIndex inborn errors of metabolism
dc.subject.otherIndex Inborn errors of metabolism
dc.subject.otherIndex M
dc.subject.otherIndex maple syrup urine disease
dc.subject.otherIndex methylmalonic acidemia
dc.subject.otherIndex MMA
dc.subject.otherIndex months
dc.subject.otherIndex MS-MS
dc.subject.otherIndex MSUD
dc.subject.otherIndex NBS
dc.subject.otherIndex Newborn screening
dc.subject.otherIndex newborn screening
dc.subject.otherIndex OA
dc.subject.otherIndex Organic acid chromatography
dc.subject.otherIndex Organic acidemias
dc.subject.otherIndex organic acidemias
dc.subject.otherIndex ornithine transcarbamylase
dc.subject.otherIndex OTC
dc.subject.otherIndex PA
dc.subject.otherIndex phenylketonuria
dc.subject.otherIndex PKU
dc.subject.otherIndex propionic acidemia
dc.subject.otherIndex Saint Joseph University
dc.subject.otherIndex tandem mass spectrometry
dc.subject.otherIndex UCD
dc.subject.otherIndex ultra performance liquid chromatography
dc.subject.otherIndex UPLC
dc.subject.otherIndex urea cycle defects
dc.subject.otherIndex USJ
dc.subject.otherIndex Y
dc.subject.otherIndex years
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Adult
dc.subject.otherIndex Amino Acid Metabolism, Inborn Errors
dc.subject.otherIndex Child
dc.subject.otherIndex Child, Preschool
dc.subject.otherIndex Chromatography, Ion Exchange
dc.subject.otherIndex Developing Countries
dc.subject.otherIndex End Stage Liver Disease
dc.subject.otherIndex Humans
dc.subject.otherIndex Infant
dc.subject.otherIndex Infant, Newborn
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Maple Syrup Urine Disease
dc.subject.otherIndex Neonatal Screening
dc.subject.otherIndex Phenylketonurias
dc.subject.otherIndex Retrospective Studies
dc.subject.otherIndex Young Adult
dc.subject.otherKeywordPlus INBORN-ERRORS
dc.subject.otherKeywordPlus AMINO-ACIDS
dc.subject.otherKeywordPlus EXCHANGE CHROMATOGRAPHY
dc.subject.otherKeywordPlus LIQUID-CHROMATOGRAPHY
dc.subject.otherKeywordPlus BIOLOGICAL-FLUIDS
dc.subject.otherKeywordPlus METABOLISM
dc.subject.otherKeywordPlus PHENYLKETONURIA
dc.subject.otherKeywordPlus PERFORMANCE
dc.subject.otherKeywordPlus POPULATION
dc.subject.otherKeywordPlus LEBANON
dc.subject.otherWOS Medical Laboratory Technology

Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search AUB ScholarWorks


My Account