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

Clinical Biochemistry

Volumn 46, Issue 18, 2013, Pages 1787-1792

  Karam, Pascale E ^a   Habbal, Mohammad Zuheir ^a   Mikati, Mohamad A ^a,b   Zaatari, Ghazi E ^a   Cortas, Najwa K ^a   Daher, Rose T ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Amino acid chromatography; Aminoacidopathies; Inborn errors of metabolism; Newborn screening; Organic acid chromatography; Organic acidemias

Indexed keywords

ACIDEMIA; ACUTE LIVER FAILURE; ADOLESCENT; ADULT; ALKAPTONURIA; AMINO ACID ANALYSIS; AMINOACIDOPATHY; ARTICLE; CANAVAN DISEASE; CHILD; CHROMATOGRAPHY; CHRONIC LIVER FAILURE; CITRULLINEMIA; FAMILY HISTORY; FEMALE; HISTIDINEMIA; HOMOCYSTINURIA; HUMAN; HYPERAMMONEMIA; HYPERARGININEMIA; HYPERGLYCINEMIA; HYPERLYSINEMIA; HYPERORNITHINEMIA; HYPERPROLINEMIA; INFANT; INTELLECTUAL IMPAIRMENT; ION EXCHANGE CHROMATOGRAPHY; KETOACIDOSIS; LACTIC ACIDOSIS; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; METABOLIC ACIDOSIS; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PHENYLKETONURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; RETROSPECTIVE STUDY; SCHOOL CHILD; TYROSINEMIA;

2-HYDROXYGLUTARIC ACIDURIA; 2HGA; 6-PTS; 6-PYRUVOYL- TETRAHYDROBIOPTERIN SYNTHASE; AA; AMERICAN UNIVERSITY OF BEIRUT MEDICAL CENTER; AMINO ACID CHROMATOGRAPHY; AMINOACIDOPATHIES; AUBMC; CB1 A-D; CB1 B; CEREBROSPINAL FLUID (CSF); COBALAMIN A-D DEFICIENCY; COBALAMIN B DEFICIENCY; CSF; D; DAYS; DHPR; DIHYDROPTERIDINE REDUCTASE; GA II; GAS CHROMATOGRAPHY MASS SPECTROMETRY; GC/MS; GLUTARIC ACIDURIA TYPE II; GTP; GUANOSINE 5 TRIPHOSPHATE CYCLOHYDROLASE; HCY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOCYSTINURIA; HPLC; IEM; INBORN ERRORS OF METABOLISM; M; MAPLE SYRUP URINE DISEASE; METHYLMALONIC ACIDEMIA; MMA; MONTHS; MS/MS; MSUD; NBS; NEWBORN SCREENING; OA; ORGANIC ACID CHROMATOGRAPHY; ORGANIC ACIDEMIAS; ORNITHINE TRANSCARBAMYLASE; OTC; PA; PHENYLKETONURIA; PKU; PROPIONIC ACIDEMIA; SAINT JOSEPH UNIVERSITY; TANDEM MASS SPECTROMETRY; UCD; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; UPLC; UREA CYCLE DEFECTS; USJ; Y; YEARS;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, ION EXCHANGE; DEVELOPING COUNTRIES; END STAGE LIVER DISEASE; HUMANS; INFANT; INFANT, NEWBORN; LEBANON; MAPLE SYRUP URINE DISEASE; NEONATAL SCREENING; PHENYLKETONURIAS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84889646044     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2013.08.009     Document Type: Article

References (32)

1. The metabolic and molecular bases of inherited metabolic diseases 2001, McGraw-Hill, New York. 8th ed. C.R. Scriver, A. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Tadmouri G.O., Nair P., Obeid T., Al Ali M.T., Al Khaja N., Hamamy H.A. Consanguinity and reproductive health among Arabs. Reprod Health Oct 8 2009, 6:17.
3. Burlina A.B., Bonafé L., Zacchello F. Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism. Semin Perinatol 1999, 23:162-173.
4. Saudubray J.M. Clinical approach to inborn errors of metabolism in pediatrics. Inborn metabolic diseases: diagnosis and treatment 2012, 3-52. Berlin-Heidelberg: Springer. J.M. Saudubray, G. van den Berghe, J.H. Walter (Eds.).
5. Wilcken B., Wiley V., Hammond J., Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003, 348:2304-2312.
6. Ellaway C.J., Wilcken B., Christodoulou J. Clinical approach to inborn errors of metabolism presenting in the newborn period. J Paediatr Child Health 2002, 38:511-517.
7. Karam P.E., Daher R.T., Moller L.B., Mikati M.A. Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene-mutation. J Child Neurol 2011, 26:142-146.
8. Khneisser I., Adib S.M., Megarbane A., Lukacs Z. International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes. J Inherit Metab Dis 2008, 31(Suppl. 2):S441-S446.
9. Godel H., Graser T., Földi P., Pfaender P., Fürst P. Measurement of free amino acids in human biological fluids by high-performance liquid chromatography. J Chromatogr 1984, 297:49-61.
10. Le Boucher J., Charret C., Coudray-Lucas C., Giboudeau J., Cynober L. Amino acid determination in biological fluids by automated ion-exchange chromatography: performance of Hitachi L-8500A. Clin Chem 1997, 43:1421-1428.
11. Lee S.H., Kim S.O., Chung B.C. Gas chromatographic-mass spectrometric determination of urinary oxoacids using O-(2,3,4,5,6-pentafluorobenzyl)oxime-trimethylsilyl ester derivatization and cation-exchange chromatography. J Chromatogr B Biomed Sci Appl 1998, 719:1-7.
12. The world factbook, central intelligence agency. Lebanon [last accessed July 12, 2013]. http://www.cia.gov/publications/the-world-factbook/geos/le.htm.
13. Daher R., Beaini M., Mahfouz R., Cortas N., Yunis K.A. Neonatal screening in Lebanon: results of five years' experience. Ann Saudi Med 2003, 23:16-19.
14. Der Kaloustian V.M. Genetic disorders in Lebanon. Genetic disorders among Arab populations 2010, 377-442. Springer, Heidelberg. A. Teebi (Ed.).
15. Al-Gazali L., Hamamy H., Al-Arrayad S. Genetic disorders in the Arab world. BMJ 2006, 333:831-834.
16. Joshi S.N., Hashim J., Venugopalan P. Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula. Ann Trop Paediatr 2002, 22:93-96.
17. Moammar H., Cheriyan G., Mathew R., Al-Sannaa N. Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008. Ann Saudi Med 2010, 30:271-277.
18. Dionisi-Vici C., Rizzo C., Burlina A.B., Caruso U., Sabetta G., Uziel G., et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 2002, 140:321-327.
19. Cerone R., Cohen A., Perfumo M., Caruso U., Romano C. Rapporto tecnico sui programmi di screening neonatale in Italia, anno 1997. Proceedings of the 8th National Conference on Neonatal Screening in Italy 1998, [Milan, Italy].
20. Hadj-Taieb S., Nasrallah F., Hammami M.B., Elasmi M., Sanhaji H., Moncef F., et al. Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23years. Tunis Med 2012, 90:258-261.
21. Tunisia country programme document 2007-2011, Unicef, version January 19, 2007, [Live births per year].
22. Khemir S., El Asmi M., Sanhaji H., Feki M., Jemaa R., Tebib N., et al. Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment. Clin Neurol Neurosurg 2011, 113:727-730.
23. Yalaz K., Vanli L., Yilmaz E., Tokatli A., Anlar B. Phenylketonuria in pediatric neurology practice: a series of 146 cases. J Child Neurol 2006, 21:987-990.
24. Shih V.E. Detection of hereditary metabolic disorders involving amino acids and organic acids. Clin Biochem 1991, 24:301-309.
25. Al Ali Taleb M., Al-Hashmi H., Mohammed N., Ahmed Z. New perspectives in inborn errors of metabolism: the Dubai experience. Genetic disorders in the Arab world: Bahrain 2006, 54-61. Centre for Arab Genomic Studies. G.O. Tadmouri, M. Taleb Al Ali, N. Al Khaja (Eds.).
26. Yadav G.C., Reavey P.C. Aminoacidopathies: a review of 3years experience of investigations in a Kuwait hospital. J Inherit Metab Dis 1988, 11:277-284.
27. Hori D., Hasegawa Y., Kimura M., Yang Y., Verma I.C., Yamaguchi S. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev 2005, 27:39-45.
28. Wasant P., Liammongkolkul S., Kuptanon C., Vatanavicharn N., Sathienkijakanchai A., Shinka T. Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience. Clin Chim Acta 2008, 392:63-68.
29. Wajner M., Coelho Dde M., Ingrassia R., de Oliveira A.B., Busanello E.N., Raymend K., et al. Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience. Clin Chim Acta 2009, 400:77-81.
30. Schadewaldt P., Bodner-Leidecker A., Hammen H.W., Wendel U. Significance of l-alloisoleucine in plasma for dianosis of maple syrup urine disease. Clin Chem 1999, 45:1734-1740.
31. Narayan S.B., Ditewig-Meyers G., Graham K.S., Scott R., Bennett M.J. Measurement of plasma amino acids by ultraperformance liquid chromatography. Clin Chem Lab Med 2011, 49:1177-1185.
32. Waterval W.A., Scheijen J.L., Ortmans-Ploemen M.M., der Poel CD Habets-van, Bierau J. Quantitative UPLC-MS/MS analysis of underivatised amino acids in body fluids is a reliable tool for the diagnosis and follow-up of patients with inborn errors of metabolism. Clin Chim Acta 2009, 407:36-42.