Morocco; amino acid disorders; fatty acid oxidation disorders; inborn errors of metabolism; organic acidemias; tandem mass spectrometry; Pediatrics
Résumé :
[en] [en] BACKGROUND: Expanded newborn screening using tandem mass spectrometry (MS/MS) for inborn errors of metabolism (IEM), such as organic acidemias (OAs), fatty acid oxidation disorders (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in Africa. With this study, we aim to establish the disease spectrum and frequency of inborn errors of OAs, FAODs, and AAs in Morocco.
METHODS: Selective screening was performed among infants and children suspected to be affected with IEM between 2016 and 2021. Amino acids and acylcarnitines spotted on filter paper were analyzed using MS/MS.
RESULTS: Out of 1178 patients with a clinical suspicion, 137 (11.62%) were diagnosed with IEM, of which 121 (88.3%) patients suffered from amino acids disorders, 11 (8%) were affected by FAOD, and 5 (3.7%) by an OA.
CONCLUSIONS: This study shows that various types of IEM are also present in Morocco. Furthermore, MS/MS is an indispensable tool for early diagnosis and management of this group of disorders.
Disciplines :
Pédiatrie
Auteur, co-auteur :
Meiouet, Faïza; Laboratoire de Recherche et d'Analyses Médicales de la Gendarmerie Royale, Avenue Ibn Sina, Agdal, Rabat 10100, Morocco
El Kabbaj, Sâad; Laboratoire de Recherche et d'Analyses Médicales de la Gendarmerie Royale, Avenue Ibn Sina, Agdal, Rabat 10100, Morocco
Abilkassem, Rachid; Service de Pédiatrie, Hôpital Militaire d'Instruction Mohamed V, Rabat 10100, Morocco
Boemer, François ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Langue du document :
Anglais
Titre :
Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry.
Guthrie R. Blood Screening for Phenylketonuria JAMA 1961 178 863 10.1001/jama.1961.03040470079019
Mac Cready R.A. Testing for Phenylketonuria J. Pediatr. 1963 62 954 955 10.1016/S0022-3476(63)80118-3
Guthrie R. Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants Pediatrics 1963 32 338 343 10.1542/peds.32.3.338
Wilson J.M. Jungner Y.G. Principles and practice of mass screening for disease Bol. Oficina Sanit. Panam. Pan Am. Sanit. Bur. 1968 65 281 393
Loeber J.G. Platis D. Zetterström R.H. Almashanu S. Boemer F. Bonham J.R. Borde P. Brincat I. Cheillan D. Dekkers E. et al. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 Int. J. Neonatal Screen. 2021 7 15 10.3390/ijns7010015
Watson M.S. Lloyd-Puryear M.A. Howell R.R. The Progress and Future of US Newborn Screening Int. J. Neonatal. Screen. 2022 8 41 10.3390/ijns8030041
Dussault J.H. Laberge C. Thyroxine (T4) determination by radioimmunological method in dried blood eluate: New diagnostic method of neonatal hypothyroidism? Union Med. Can. 1973 102 2062 2064
Millington D.S. Kodo N. Norwood D.L. Roe C.R. Tandem Mass Spectrometry: A New Method for Acylcarnitine Profiling with Potential for Neonatal Screening for Inborn Errors of Metabolism J. Inherit. Metab. Dis. 1990 13 321 324 10.1007/BF01799385
Millington D.S. Terada N. Chace D.H. Chen Y.T. Ding J.H. Kodo N. Roe C.R. The Role of Tandem Mass Spectrometry in the Diagnosis of Fatty Acid Oxidation Disorders Prog. Clin. Biol. Res. 1992 375 339 354
Chace D.H. Millington D.S. Terada N. Kahler S.G. Roe C.R. Hofman L.F. Rapid Diagnosis of Phenylketonuria by Quantitative Analysis for Phenylalanine and Tyrosine in Neonatal Blood Spots by Tandem Mass Spectrometry Clin. Chem. 1993 39 66 71 10.1093/clinchem/39.1.66
Zytkovicz T.H. Fitzgerald E.F. Marsden D. Larson C.A. Shih V.E. Johnson D.M. Strauss A.W. Comeau A.M. Eaton R.B. Grady G.F. Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots: A Two-Year Summary from the New England Newborn Screening Program Clin. Chem. 2001 47 1945 1955 10.1093/clinchem/47.11.1945
Lehotay D.C. Hall P. Lepage J. Eichhorst J.C. Etter M.L. Greenberg C.R. LC–MS/MS Progress in Newborn Screening Clin. Biochem. 2011 44 21 31 10.1016/j.clinbiochem.2010.08.007 20709048
Schulze A. Lindner M. Kohlmüller D. Olgemöller K. Mayatepek E. Hoffmann G.F. Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications Pediatrics 2003 111 1399 1406 10.1542/peds.111.6.1399 12777559
Mak C.M. Lee H.-C.H. Chan A.Y.-W. Lam C.-W. Inborn Errors of Metabolism and Expanded Newborn Screening: Review and Update Crit. Rev. Clin. Lab. Sci. 2013 50 142 162 10.3109/10408363.2013.847896 24295058
Alfadhel M. Benmeakel M. Hossain M.A. Al Mutairi F. Al Othaim A. Alfares A.A. Al Balwi M. Alzaben A. Eyaid W. Thirteen Year Retrospective Review of the Spectrum of Inborn Errors of Metabolism Presenting in a Tertiary Center in Saudi Arabia Orphanet J. Rare Dis. 2016 11 1 2 10.1186/s13023-016-0510-3
Sanderson S. Green A. Preece M.A. Burton H. The Incidence of Inherited Metabolic Disorders in the West Midlands, UK Arch. Dis. Child. 2006 91 896 899 10.1136/adc.2005.091637
Saudubray J.M. Garcia-Cazorla À. Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management Pediatr. Clin. N. Am. 2018 65 179 208 10.1016/j.pcl.2017.11.002
Bradford L. Therrell B.L. Lloyd-Puryear M.A. Ohene-Frempong K. Ware R.E. Padilla C.D. Ambrose E.E. Barkat A. Ghazal H. Kiyaga C. et al. Empowering Newborn Screening Programs in African Countries through Establishment of an International Collaborative Effort J. Community Genet. 2020 11 253 268 10.1007/s12687-020-00463-7
Maniar S. Amor C. Bijjou A. Screening of Congenital Hyperthyroidism in Morocco: A Pilot Study East. Mediterr. Health J. 2018 24 1066 1073 10.26719/2018.24.11.1066
Oulmaati A. Hmami F. Hida M. Bouharrou A. L’hypothyroïdie congénitale est une cause fréquente d’hospitalisation en réanimation néonatale au Maroc Arch. Pédiatrie 2016 23 105 106 10.1016/j.arcped.2015.10.010
Al Riyami S. Al Maney M. Joshi S.N. Bayoumi R. Detection of Inborn Errors of Metabolism Using Tandem Mass Spectrometry among High-Risk Omani Patients Oman Med. J. 2012 27 482 485 10.5001/omj.2012.115 23226820
Han L. Han F. Ye J. Qiu W. Zhang H. Gao X. Wang Y. Ji W. Gu X. Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry J. Clin. Lab. Anal. 2015 29 162 168 10.1002/jcla.21745 24797655
Hadj-Taieb S. Nasrallah F. Hammami M.B. Elasmi M. Sanhaji H. Moncef F. Kaabachi N. Aminoacidopathies and Organic Acidurias in Tunisia: A Retrospective Survey over 23 Years Tunis. Med. 2012 90 258 261 22481200
AlObaidy H. Patterns of Inborn Errors of Metabolism: A 12 Year Single-Center Hospital-Based Study in Libya Qatar Med. J. 2013 2013 18 10.5339/qmj.2013.18 25003067
De Lonlay P. Dubois S. Valayannopoulos V. Depondt E. Ottolenghi C. Rabier D. Prise En Charge Médicale et Diététique Des Maladies Héréditaires Du Métabolisme Springer Paris, France 2013 10.1007/978-2-8178-0046-2
Meiouet F. El Kabbaj S. Debray F.G. Boemer F. Diagnosis and Monitoring of Phenylketonuria by LC-MS-MS in Morocco Ann. Biol. Clin. 2021 79 49 55 10.1684/abc.2021.1619
El-Metwally A. Yousef Al-Ahaidib L. Ayman Sunqurah A. Al-Surimi K. Househ M. Alshehri A. Da’Ar O.B. Abdul Razzak H. Alodaib A.N. The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review BioMed. Res. Int. 2018 2018 7697210 10.1155/2018/7697210
Khemir S. El Asmi M. Sanhaji H. Feki M. Jemaa R. Tebib N. Dhondt J.L. Ben Dridi M.F. Mebazaa A. Kaabachi N. Phenylketonuria Is Still a Major Cause of Mental Retardation in Tunisia despite the Possibility of Treatment Clin. Neurol. Neurosurg. 2011 113 727 730 10.1016/j.clineuro.2011.07.016 21862209
Nagaraja D. Mamatha S.N. De T. Christopher R. Screening for Inborn Errors of Metabolism Using Automated Electrospray Tandem Mass Spectrometry: Study in High-Risk Indian Population Clin. Biochem. 2010 43 581 588 10.1016/j.clinbiochem.2009.12.009 20026021
Shibata N. Hasegawa Y. Yamada K. Kobayashi H. Purevsuren J. Yang Y. Dung V.C. Khanh N.N. Verma I.C. Bijarnia-Mahay S. et al. Diversity in the Incidence and Spectrum of Organic Acidemias, Fatty Acid Oxidation Disorders, and Amino Acid Disorders in Asian Countries: Selective Screening vs. Expanded Newborn Screening Mol. Genet. Metab. Rep. 2018 16 5 10 10.1016/j.ymgmr.2018.05.003 29946514
Magoulas P.L. El-Hattab A.W. Systemic Primary Carnitine Deficiency: An Overview of Clinical Manifestations, Diagnosis, and Management Orphanet J. Rare Dis. 2012 7 68 10.1186/1750-1172-7-68
Pajares S. Arranz J.A. Ormazabal A. Del Toro M. García-Cazorla Á. Navarro-Sastre A. López R.M. Meavilla S.M. de los Santos M.M. García-Volpe C. et al. Implementation of Second-Tier Tests in Newborn Screening for the Detection of Vitamin B12 Related Acquired and Genetic Disorders: Results on 258,637 Newborns Orphanet J. Rare Dis. 2021 16 195 10.1186/s13023-021-01784-7
Jaouad I.C. Elalaoui S.C. Sbiti A. Elkerh F. Belmahi L. Sefiani A. Consanguineous Marriages in Morocco and the Consequence for the Incidence of Autosomal Recessive Disorders J. Biosoc. Sci. 2009 41 575 581 10.1017/S0021932009003393 19433002
Schulpen T.W.J. van Wieringen J.C.M. van Brummen P.J. van Riel J.M. Beemer F.A. Westers P. Huber J. Infant Mortality, Ethnicity, and Genetically Determined Disorders in The Netherlands Eur. J. Public Health 2006 16 290 293 10.1093/eurpub/cki201 16207723
Hazan G. Hershkovitz E. Staretz-Chacham O. Incidence of Inherited Metabolic Disorders in Southern Israel: A Comparison between Consanguinity and Non-Consanguinity Communities Orphanet J. Rare Dis. 2020 15 331 10.1186/s13023-020-01578-3 33239050
Afzal R.M. Lund A.M. Skovby F. The Impact of Consanguinity on the Frequency of Inborn Errors of Metabolism Mol. Genet. Metab. Rep. 2018 15 6 10 10.1016/j.ymgmr.2017.11.004 29387562
