342
Views
4
CrossRef citations to date
0
Altmetric
Review Article

Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse

, , &
Pages 8952-8967 | Received 24 Sep 2021, Accepted 16 Nov 2021, Published online: 30 Nov 2021

References

  • Rosenberg LE, Lilljeqvist A, Hsia YE. Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency. Science. 1968;162(3855):805–807.
  • Rosenberg LE, Lilljeqvist AC, Hsia YE. Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia. N Engl J Med. 1968;278(24):1319–1322.
  • Tanpaiboon P. Methylmalonic acidemia (MMA). Mol Genet Metab. 2005;85(1):2–6.
  • Morrow G, 3rd, Barness LA, Cardinale GJ, et al. Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease. Proc Natl Acad Sci U S A. 1969;63(1):191–197.
  • Pillai NR, Stroup BM, Poliner A, et al. Liver transplantation in propionic and methylmalonic acidemia: a single center study with literature review. Mol Genet Metab. 2019;128(4):431–443.
  • Raval DB, Merideth M, Sloan JL, et al. Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. J Inherit Metab Dis. 2015;38(5):839–846.
  • Huemer M, Scholl-Bürgi S, Hadaya K, et al. Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. Orphanet J Rare Dis. 2014;9:161.
  • Carrillo-Carrasco N, Chandler RJ, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis. 2012;35(1):91–102.
  • Carrillo-Carrasco N, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis. 2012;35(1):103–114.
  • Sahai I, Marsden D. Newborn screening. Crit Rev Clin Lab Sci. 2009;46(2):55–82.
  • Han LS, Ye J, Qiu WJ, et al. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis. 2007;30(4):507–514.
  • Tangeraas T, Saeves I, Klingenberg C, et al. Performance of expanded newborn screening in Norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses. Int J Neonatal Screen. 2020;6(3):51.
  • Smon A, Repic Lampret B, Groselj U, et al. Next generation sequencing as a follow-up test in an expanded newborn screening programme. Clin Biochem. 2018;52:48–55.
  • Wilcken B, Haas M, Joy P, et al. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics. 2009;124(2):e241–e248.
  • Wilcken B, Wiley V, Hammond J, et al. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med. 2003;348(23):2304–2312.
  • Wilson C, Kerruish NJ, Wilcken B, et al. The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening. N Z Med J. 2007;120(1262):U2727.
  • Auray-Blais C, Cyr D, Drouin R. Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules. J Inherit Metab Dis. 2007;30(4):515–521.
  • Yang C, Zhou C, Xu P, et al. Newborn screening and diagnosis of inborn errors of metabolism: a 5-year study in an Eastern Chinese population. Clin Chim Acta. 2020;502:133–138.
  • Kuhara T. Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism. Mass Spectrom Rev. 2005;24(6):814–827.
  • Chace DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002;3:17–45.
  • Gallagher RC, Pollard L, Scott AI, et al. Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(7):683–691.
  • Page MJ, Moher D, Bossuyt PM, et al. PRISMA 2020 explanation and elaboration: updated guidance and exemplars for reporting systematic reviews. BMJ. 2021;372:n160.
  • Hoy D, Brooks P, Woolf A, et al. Assessing risk of bias in prevalence studies: modification of an existing tool and evidence of interrater agreement. J Clin Epidemiol. 2012;65(9):934–939.
  • Yang Y, Wang L, Wang B, et al. Application of next-generation sequencing following tandem mass spectrometry to expand newborn screening for inborn errors of metabolism: a multicenter study. Front Genet. 2019;10:86.
  • la Marca G, Malvagia S, Casetta B, et al. Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests. J Inherit Metab Dis. 2008;31 Suppl 2:S395–S404.
  • Frazier DM, Millington DS, McCandless SE, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005. J Inherit Metab Dis. 2006;29(1):76–85.
  • Zytkovicz TH, Fitzgerald EF, Marsden D, et al. 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(11):1945–1955.
  • Mohamed S, Elsheikh W, Al-Aqeel AI, et al. Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study. Saudi Med J. 2020;41(7):703–708.
  • Mao X, Li S, Ma Y, et al. Ethnic preference distribution of inborn errors of metabolism: a 4-year study in a multi-ethnic region of China. Clin Chim Acta. 2020;511:160–166.
  • Deng K, Zhu J, Yu E, et al. Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: a census of over seven million newborns between 2016 and 2017. J Med Screen. 2020;26:969141320973690.
  • Ma S, Guo Q, Zhang Z, et al. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China. J Clin Lab Anal. 2020;34(5):e23159.
  • Lin Y, Zheng Q, Zheng T, et al. Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a Southern Chinese population. Clin Chim Acta. 2019;494:106–111.
  • Wang T, Ma J, Zhang Q, et al. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum, prevalence, genetic characteristics in a Chinese population. Front Genet. 2019;10:1052.
  • Yang CJ, Wei N, Li M, et al. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China. BMC Pediatr. 2018;18(1):110.
  • Messina M, Meli C, Raudino F, et al. Expanded newborn screening using tandem mass spectrometry: seven years of experience in Eastern Sicily. Int J Neonatal Screen. 2018;4(2):12.
  • Shibata N, Hasegawa Y, Yamada K, 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.
  • Alfadhel M, Al Othaim A, Al Saif S, et al. Expanded newborn screening program in Saudi Arabia: incidence of screened disorders. J Paediatr Child Health. 2017;53(6):585–591.
  • Hassan FA, El-Mougy F, Sharaf SA, et al. Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: the first newborn screening pilot study. J Med Screen. 2016;23(3):124–129.
  • Khneisser I, Adib S, Assaad S, et al. Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon. J Med Screen. 2015;22(4):182–186.
  • Scolamiero E, Cozzolino C, Albano L, et al. Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. Mol Biosyst. 2015;11(6):1525–1535.
  • Lim JS, Tan ES, John CM, et al. Inborn error of metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): an 8-year journey from pilot to current program. Mol Genet Metab. 2014;113(1–2):53–61.
  • Barends M, Pitt J, Morrissy S, et al. Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening. Mol Genet Metab. 2014;113(1–2):46–52.
  • Lund AM, Hougaard DM, Simonsen H, et al. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland – experience and development of a routine program for expanded newborn screening. Mol Genet Metab. 2012;107(3):281–293.
  • Lindner M, Gramer G, Haege G, et al. Efficacy and outcome of expanded newborn screening for metabolic diseases – report of 10 years from South-West Germany. Orphanet J Rare Dis. 2011;6:44.
  • Couce ML, Castiñeiras DE, Bóveda MD, et al. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. Mol Genet Metab. 2011;104(4):470–475.
  • Lee HC, Mak CM, Lam CW, et al. Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. Chin Med J. 2011;124(7):983–989.
  • Vilarinho L, Rocha H, Sousa C, et al. Four years of expanded newborn screening in Portugal with tandem mass spectrometry. J Inherit Metab Dis. 2010;33 Suppl 3 (Suppl 3):S133–S138.
  • Niu DM, Chien YH, Chiang CC, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis. 2010;33(Suppl 2):S295–S3305.
  • Loukas YL, Soumelas GS, Dotsikas Y, et al. Expanded newborn screening in Greece: 30 months of experience. J Inherit Metab Dis. 2010;33 Suppl 3 (Suppl 3):S341–S348.
  • Kasper DC, Ratschmann R, Metz TF, et al. The national Austrian newborn screening program – eight years experience with mass spectrometry. Past, present, and future goals. Wien Klin Wochenschr. 2010;122(21–22):607–613.
  • Moammar H, Cheriyan G, Mathew R, et al. Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983–2008. Ann Saudi Med. 2010;30(4):271–277.
  • Walter JH, Patterson A, Till J, et al. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study. J Inherit Metab Dis. 2009;32(1):95–101.
  • Centers for Disease Control and Prevention (CDC). Impact of expanded newborn screening–United States, 2006. MMWR Morb Mortal Wkly Rep. 2008;57(37):1012–1005.
  • Lee NC, Chien YH, Peng SF, et al. Brain damage by mild metabolic derangements in methylmalonic acidemia. Pediatr Neurol. 2008;39(5):325–329.
  • Abdel-Hamid M, Tisocki K, Sharaf L, et al. Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants. Med Princ Pract. 2007;16(3):215–221.
  • Huang HP, Chu KL, Chien YH, et al. Tandem mass neonatal screening in Taiwan–report from one center. J Formos Med Assoc. 2006;105(11):882–886.
  • Yoon HR, Lee KR, Kang S, et al. Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report . Clin Chim Acta. 2005;354(1–2):167–180.
  • Hoffmann GF, von Kries R, Klose D, et al. Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr. 2004;163(2):76–80.
  • Auray-Blais C, Giguère R, Lemieux B. Newborn urine screening programme in the province of Quebec: an update of 30 years’ experience. J Inherit Metab Dis. 2003;26(4):393–402.
  • Schulze A, Lindner M, Kohlmüller D, et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics. 2003;111(6 Pt 1):1399–1406.
  • Shigematsu Y, Hirano S, Hata I, et al. Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B Analyt Technol Biomed Life Sci. 2002;776(1):39–48.
  • Kuhara T, Shinka T, Inoue Y, et al. Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease. J Chromatogr B Biomed Sci Appl. 1999;731(1):141–147.
  • Wiley V, Carpenter K, Wilcken B. Newborn screening with tandem mass spectrometry: 12 months’ experience in Nsw Australia. Acta Paediatr Suppl. 1999;88(432):48–51.
  • Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14 (Suppl 1):S4–S8.
  • Guo K, Zhou X, Chen X, et al. Expanded newborn screening for inborn errors of metabolism and genetic characteristics in a Chinese population. Front Genet. 2018;9:122.
  • Cantú-Reyna C, Zepeda LM, Montemayor R, et al. Incidence of inborn errors of metabolism by expanded newborn screening in a mexican hospital. J. Inborn Errors Metab Screening. 2016;4(11):1–8.
  • Chong SC, Law LK, Hui J, et al. Expanded newborn metabolic screening programme in Hong Kong: a three-year journey. Hong Kong Med J. 2017;23(5):489–496.
  • Shi XT, Cai J, Wang YY, et al. Newborn screening for inborn errors of metabolism in mainland china: 30 years of experience. JIMD Rep. 2012;6:79–83.
  • Park KJ, Park S, Lee E, et al. A population-based genomic study of inherited metabolic diseases detected through newborn screening. Ann Lab Med. 2016;36(6):561–572.
  • Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics. 2000;105(1):e10.
  • Al Hosani H, Salah M, Osman HM, et al. Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. East Mediterr Health J. 2014;20(1):17–23.
  • Al Bu Ali WH, Balaha MH, Al Moghannum MS, et al. Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia. Pan Afr Med J. 2011;8:14.
  • Yamaguchi S. Newborn screening in Japan: restructuring for the new era. Ann Acad Med Singap. 2008;37(12 Suppl):13–15.
  • Sharma P, Kumar P, Tyagi MS, et al. Prevalence of inborn errors of metabolism in neonates. J Clin Diagn Res. 2018;12(5):BC07–BC13.
  • Yoon HR, Lee KR, Kim H, et al. Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3 (Suppl 3):115–120.
  • Huang XW, Yang JB, Tong F, et al. Screening for neonatal inborn errors of metabolism by electrospray ionization-tandem mass spectrometry and follow-up. Zhonghua Er Ke Za Zhi. 2011;49(10):765–770. Chinese.
  • Xu HH, Zhai KQ, Nie CH. Analysis of screening of 48 kinds of inherit metabolic disease in newborns from 91 406 cases in kaifeng area. Chin J Birth Health Heredity. 2018;26(8):67–68.
  • Wang LW, Ni M, Jia CL, et al. Analysis of screening results of mass spectrometry-mass spectrometry for neonatal methylmalonic academia in Henan province. Chin J Birth Health Heredity. 2019;27(7):846–848.
  • Hong F, Huang X, Zhang Y, et al. Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017;46(3):240–247. Chinese.
  • Zhang R, Qiang R, Song C, et al. Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population. Sci Rep. 2021;11(1):2699.
  • Ao ZZ, Wang J, Li ST, et al. Application of tandem, masss pectrometry combined with second-generation sequencing in the screening and, analysis of 20000 cases of neonatal genetic diseases. Clin J Appl Clin Pediatr. 2020;35(24):1881–1885. Chinese.
  • Xu K, Wang L, Cai H, et al. Screening for inborn errors of metabolism using gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl. 2001;758(1):75–80.
  • Hori D, Hasegawa Y, Kimura M, et al. 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(1):39–45.
  • Márquez-Caraveo ME, Ibarra-González I, Rodríguez-Valentín R, et al. Brief report: delayed diagnosis of treatable inborn errors of metabolism in children with autism and other neurodevelopmental disorders. J Autism Dev Disord. 2021;51(6):2124–2131.
  • Wajner M, Sitta A, Kayser A, et al. Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: eleven-year experience of a reference center. Genet Mol Biol. 2019;42(1 suppl 1):178–185.
  • Altimimi HA, Aljawadi HF, Ali EA. Inborn errors of metabolism in children with unexplained developmental delay in Misan, Iraq. Oman Med J. 2019;34(4):297–301.
  • Vargas CR, Ribas GS, da Silva JM, et al. Selective screening of fatty acids oxidation defects and organic acidemias by liquid chromatography/tandem mass spectrometry acylcarnitine analysis in Brazilian patients. Arch Med Res. 2018;49(3):205–212.
  • ICMR Task Force on Inherited Metabolic Disorders. High risk stratified neonatal screening. Indian J Pediatr. 2018;85(12):1050–1054.
  • Wang H, Wang X, Li Y, et al. Screening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China. Biomed Chromatogr. 2017;31(4):e3847.
  • Hampe MH, Panaskar SN, Yadav AA, et al. Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: an Indian experience. Clin Biochem. 2017;50(3):121–126.
  • Dogan E, Uysal S, Ozturk Y, et al. Selective screening for inborn errors of metabolism: a report of six years’ experience. Iran J Pediatr. 2017;27(5):e11323.
  • Kiykim E, Zeybek CA, Zubarioglu T, et al. Inherited metabolic disorders in Turkish patients with autism spectrum disorders. Autism Res. 2016;9(2):217–223.
  • Han L, Han F, Ye J, et al. Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry. J Clin Lab Anal. 2015;29(2):162–168.
  • Jiang M, Liu L, Mei H, et al. Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in Southern China. J Pediatr Endocrinol Metab. 2015;28(3–4):375–380.
  • Shawky RM, Abd-Elkhalek HS, Elakhdar S. Selective screening in neonates suspected to have inborn errors of metabolism. Egypt J Med Hum Genet. 2015;16(2):165–171.
  • Selim LA, Hassan SA, Salem F, et al. Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report. Clin Biochem. 2014;47(9):823–828.
  • Golbahar J, Al-Jishi EA, Altayab DD, et al. Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the kingdom of Bahrain. Mol Genet Metab. 2013;110(1–2):98–101.
  • Karam PE, Habbal MZ, Mikati MA, et al. Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience. Clin Biochem. 2013;46(18):1787–1792.
  • Tu W, He J, Dai F, et al. Impact of inborn errors of metabolism on admission in a neonatal intensive care unit – a prospective cohort study. Indian J Pediatr. 2012;79(4):494–500.
  • Huang X, Yang L, Tong F, et al. Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China. BMC Pediatr. 2012;12:18.
  • Al Riyami S, Al Maney M, Joshi SN, et al. Detection of inborn errors of metabolism using tandem mass spectrometry among high-risk omani patients. Oman Med J. 2012;27(6):482–485.
  • Tu WJ, Dai F, Wang XY, et al. Liquid chromatography-tandem mass spectrometry for analysis of acylcarnitines in dried blood specimens collected at autopsy from neonatal intensive care unit. Chin Med Sci J. 2010;25(2):109–114.
  • Nagaraja D, Mamatha SN, De T, et al. Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population. Clin Biochem. 2010;43(6):581–588.
  • Wajner M, Coelho D. D M, Ingrassia R, et al. Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience. Clin Chim Acta. 2009;400(1–2):77–81.
  • Song YZ, Li BX, Hao H, et al. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China. Clin Biochem. 2008;41(7–8):616–620.
  • Yang Y, Yao Z, Song J, et al. Outcome of organic acidurias in China. Ann Acad Med Singap. 2008;37(12 Suppl):120–123.
  • Joshi SN, Venugopalan P. Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman. Brain Dev. 2007;29(9):543–546.
  • Tan IK, Gajra B, Lim MS. Study of inherited metabolic disorders in Singapore – 13 years’ experience. Ann Acad Med Singap. 2006;35(11):804–813.
  • Wajner M, Raymond K, Barschak A, et al. Detection of organic acidemias in Brazil. Arch Med Res. 2002;33(6):581–585.
  • Chace DH, DiPerna JC, Mitchell BL, et al. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001;47(7):1166–1182.
  • Machill G, Grimm U, Ahlbehrendt I, et al. Results of selective screening for inborn errors of metabolism in the former East Germany. Eur J Pediatr. 1994;153(7 Suppl 1):S14–S16.
  • Lehnert W. Long-term results of selective screening for inborn errors of metabolism. Eur J Pediatr. 1994;153(7 Suppl 1):S9–S13.
  • Lehnert W, Niederhoff H. Seven years of experience with selective screening for organic acidurias. Eur J Pediatr. 1984;142(3):208–210.
  • Chalmers RA, Purkiss P, Watts RW, et al. Screening for organic acidurias and amino acidopathies in newborns and children. J Inherit Metab Dis. 1980;3(2):27–43.
  • Bower A, Imbard A, Benoist JF, et al. Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening. Sci Rep. 2019;9(1):14098.
  • Hafeez A, Ijaz A, Chaudhry N, et al. Diagnosis of inherited metabolic disorders by selective metabolite testing: three years’ experience at a tertiary care center in Rawalpindi. J Pak Med Assoc. 2020;70(1):53–57.
  • AlObaidy H. Patterns of inborn errors of metabolism: a 12 year single-center hospital-based study in Libya. Qatar Med J. 2013;2013(2):57–65.
  • Gündüz M, Ünal S, Okur İ, et al. Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital. Turk J Pediatr. 2015;57(1):45–52.
  • Cheema HA, Malik HS, Parkash A, et al. Spectrum of inherited metabolic disorders in pakistani children presenting at a tertiary care Centre. J Coll Physicians Surg Pak. 2016;26(6):498–502.
  • Lin SX, Shu JB, Wang C, et al. Clinical analysis of 15 851 children at risk of inherited metabolic diseases. Zhongguo Dang Dai Er Ke Za Zhi. 2017;19(12):1243–1247. Chinese.
  • Gu XF, Han LS, Gao XL, et al. A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China. Zhonghua Er Ke Za Zhi. 2004;42(6):401–404. Chinese.
  • Xu FL, Fan T, Duan JJ, et al. Clinical analysis of organic acidemia in neonates from neonatal intensive care units. Zhongguo Dang Dai Er Ke Za Zhi. 2012;14(5):336–339. Chinese.
  • Luo XP, Wang MT, Wei H, et al. Application of gas chromatography-mass spectrometry analysis on urine filter paper in the clinical-suspected screening and diagnosis of inherited metabolic diseases. Zhonghua Er Ke Za Zhi. 2003;41(4):245–248. Chinese.
  • Xie LJ, Zhu JX, Zhu XD, et al. Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children. Zhongguo Dang Dai Er Ke Za Zhi. 2008;10(1):31–34. Chinese.
  • Han LS, Gao XL, Ye J, et al. Study of application of the tandem mass spectrometry in the differential diagnosis of organic acidemias. J Clin Pediatr. 2006;24(12):970–974. Chinese.
  • Almási T, Guey LT, Lukacs C, et al. Systematic literature review and meta-analyse on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. Orphanet J Rare Dis. 2019;14(1):84.
  • Waters D, Adeloye D, Woolham D, et al. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health. 2018;8(2):021102.
  • Moorthie S, Cameron L, Sagoo GS, et al. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases. J Inherit Metab Dis. 2014;37(6):889–898.
  • Shalev SA. Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel. Clin Genet. 2019;95(1):3–9.
  • Kari JA, Bockenhauer D, Stanescu H, et al. Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research. Am J Kidney Dis. 2014;63(2):304–310.
  • Feuchtbaum L, Lorey F, Faulkner L, et al. California’s experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry. Pediatrics. 2006;117(5 Pt 2):S261–S269.
  • Khalaf SM, El-Tellawy MM, Refat NH, et al. Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital. Egypt J Med Hum Genet. 2019;20(1):29.
  • Tu W, Song X, Dai F, et al. Application of liquid chromatography-tandem mass spectrometry (LC-MS/MS) in screening of high risk children with inherited metabolic diseases in Northern China. J Pediatr Endocrinol Metab. 2010;23(12):1245–1252.
  • Lukacs Z, Santer R. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders. Mol Nutr Food Res. 2006;50(4–5):443–450.
  • Meng M, Zhang YP. Impact of inborn errors of metabolism on admission in a neonatal intensive care unit: a 4-year report. J Pediatr Endocrinol Metab. 2013;26(7–8):689–693.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.