Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 98-101

  Golbahar, J ^a,b   Al Jishi, E A ^c   Altayab, D D ^a,b   Carreon, E ^a,b   Bakhiet, M ^a   Alkhayyat, H ^d  

^a ARABIAN GULF UNIVERSITY   (Bahrain)

^b Diagnostic Services Biochemical Genetic Unit Princess Al Jawhara Centre for Genetic Diagnosis and Research   (Bahrain)

^c HH Princess Al Jawhara Center for Genetics and Inherited Diseases   (Bahrain)

^d BAHRAIN DEFENSE FORCE HOSPITAL   (Bahrain)

Author keywords

Bahrain; Inborn errors of metabolism; Selective screening

Indexed keywords

AMINO ACID; CARBOXYLIC ACID; FATTY ACID;

AMINO ACID METABOLISM; ARTICLE; CONSANGUINEOUS MARRIAGE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF LIPID METABOLISM; DRIED BLOOD SPOT TESTING; FATTY ACID METABOLISM; HUMAN; INBORN ERROR OF METABOLISM; LIVE BIRTH; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; AMINO ACID METABOLISM, INBORN ERRORS; BAHRAIN; EARLY DIAGNOSIS; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; GENETICS; LIPID METABOLISM, INBORN ERRORS; MALE; METABOLISM; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS; BAHRAIN; EARLY DIAGNOSIS; FATTY ACIDS; FEMALE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; NEONATAL SCREENING; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY;

EID: 84882915305     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.006     Document Type: Article

References (25)

1. Marsden D., Larson C., Levy H.L. Newborn screening for metabolic disorders. J. Pediatr. 2006, 148:577-584.
2. Rinaldo P., Hahn S.H., Matern D. Inborn errors of amino acid, organic acid, and fatty acid metabolism. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics 2005, 2207-2247. WB Saunders, Philadelphia. 4th ed. C.A. Burtis, E.R. Ashwood, D.E. Bruns (Eds.).
3. Kuehn B.M. After 50years, newborn screening continues to yield public health gains. JAMA 2013, 309:1215-1217.
4. García-Cazorla A., Wolf N.I., Serrano M., Moog U., Pérez-Dueñas B., Póo P., Pineda M., Campistol J., Hoffmann G.F. Mental retardation and inborn errors of metabolism. J. Inherit. Metab. Dis. 2009, 32:597-608.
5. Chace D.H., Kalas T.A. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin. Biochem. 2005, 38:296-309.
6. Copeland S. A review of newborn screening in the era of tandem mass spectrometry: what's new for the pediatric neurologist?. Semin. Pediatr. Neurol. 2008, 15:110-116.
7. 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.
8. Saadallah A.A., Rashed M.S. Newborn screening: experiences in the Middle East and North Africa. J. Inherit. Metab. Dis. 2007, 30:482-489.
9. Abu-Osba Y.K., Mallouh A., Salamah M., Hann R., Thalji A., Hamdan J. Comprehensive newborn screening program: Aramco experience, the national need and recommendations. Ann. Saudi Med. 1992, 12:235-240.
10. Bittles A.H. The role and significance of consanguinity as a demographic variable. Popul. Dev. Rev. 1994, 20:561-584.
11. el-Hazmi M.A., al-Swailem A.R., Warsy A.S., al-Swailem A.M., Sulaimani R., al-Meshari A.A. Consanguinity among the Saudi Arabian population. J. Med. Genet. 1995, 32:623-626.
12. Al-Gazali L., Hamamy H., Al-Arrayad S. Genetic disorders in the Arab world. BMJ 2006, 333:831-834.
13. El-Hazmi M.A., Warsy A. Genetic disorders among Arab populations. Saudi Med. J. 1996, 17:108-123.
14. Al-Arrayed S., Hamamy H.J. The changing profile of consanguinity rates in Bahrain. Biosoc. Sci. 2012, 1990-2009(44):313-319.
15. Hoffmann G.F. Selective screening for inborn errors of metabolism-past, present and future. Eur. J. Pediatr. 1994, 153:S2-S8.
16. Kumps A., Duez P., Genin J., Mardens Y. Gas chromatography-mass spectrometry analysis of organic acids: altered quantitative response for aqueous calibrators and dilute urine specimens. Clin. Chem. 1999, 45:1297-1300.
17. Costa C.G., Guérand W.S., Struys E.A., Holwerda U., ten Brink H.J., Tavares A.I., Duran M., Jakobs C. Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS. J. Pharm. Biomed. Anal. 2000, 21:1215-1224.
18. Rinaldo P., O'Shea J.J., Coates P.M., Hale D.E., Stanley C.A., Tanaka K. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N. Engl. J. Med. 1988, 319:1308-1313.
19. Ziegler Frédéric, Le Boucher Jacques, Coudray-Lucas Colette, Cynober Luc Plasma amino-acid determinations by reversed-phase HPLC: improvement of the orthophthalaldehyde method and comparison with ion exchange chromatography. J. Autom. Chem. 1992, 14:145-149.
20. Rashed M., Ozand P.T., al Aqeel A., Gascon G.G. Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders. Brain Dev. 1994, 16:1-6.
21. Subramanyam S.B. Saudi aminoacidemias: a six-year study. Indian J. Pediatr. 1996, 63:641-644.
22. 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.
23. Golbahar J., Karamizadeh Z., Honardar Z. Selective screening of amino acid disorders in the south-west of Iran, Shiraz. J. Inherit. Metab. Dis. 2002, 25:519-521.
24. Golbahar J., Al-Khayyat H., Hassan B., Agab W., Hassan E., Darwish A. Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain. J. Pediatr. Endocrinol. Metab. 2010, 23:39-44.
25. Krotoski D., Namaste S., Raouf R.K., Nekhely I.E., Hindi-Alexander M., Engelson G., Hanson J.W., Howell R. Conference report: second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and research opportunities. Genet. Med. 2009, 11:663-668.