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ISSN (Online): 1875-6336

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Review Article

Inborn Errors of Metabolism Screening in Neonates: Current Perspective with Diagnosis and Therapy

Author(s): Sukhes Mukherjee* and Suman Kumar Ray

Volume 18, Issue 4, 2022

Published on: 12 May, 2022

Page: [274 - 285] Pages: 12

DOI: 10.2174/1573396318666220404194452

Price: $65

Abstract

Inborn errors of metabolism (IEMs) are rare hereditary or acquired disorders resulting from an enzymatic deformity in biochemical and metabolic pathways influencing proteins, fats, carbohydrate metabolism, or hampered some organelle function. Even though individual IEMs are uncommon, together, they represent a diverse class of genetic diseases, with new issues and disease mechanisms being portrayed consistently. IEM includes the extraordinary multifaceted nature of the fundamental pathophysiology, biochemical diagnosis, molecular level investigation, and complex therapeutic choices. However, due to the molecular, biochemical, and clinical heterogeneity of IEM, screening alone will not detect and diagnose all illnesses included in newborn screening programs. Early diagnosis prevents the emergence of severe clinical symptoms in the majority of IEM cases, lowering morbidity and death. The appearance of IEM disease can vary from neonates to adult people, with the more serious conditions showing up in juvenile stages along with significant morbidity as well as mortality. Advances in understanding the physiological, biochemical, and molecular etiologies of numerous IEMs by means of modalities, for instance, the latest molecular-genetic technologies, genome engineering knowledge, entire exome sequencing, and metabolomics, have prompted remarkable advancement in detection and treatment in modern times. In this review, we analyze the biochemical basis of IEMs, clinical manifestations, the present status of screening, ongoing advances, and efficiency of diagnosis in treatment for IEMs, along with prospects for further exploration as well as innovation.

Keywords: Inborn errors of metabolism, biochemical diagnosis, molecular level investigation, clinical manifestations, neonatal screening, metabolomics.

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[1]
Echeverri OY, Guevara JM, Espejo-Mojica AJ, et al. Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center. Orphanet J Rare Dis 2018; 13(1): 141.
[http://dx.doi.org/10.1186/s13023-018-0879-2] [PMID: 30115094]
[2]
Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice. Ann Transl Med 2018; 6(24): 469.
[http://dx.doi.org/10.21037/atm.2018.12.34] [PMID: 30740400]
[3]
Ferreira CR, van Karnebeek CDM. Inborn errors of metabolism. Handb Clin Neurol 2019; 162: 449-81.
[http://dx.doi.org/10.1016/B978-0-444-64029-1.00022-9] [PMID: 31324325]
[4]
Saudubray JM, Baumgartner MR, Walter JH. Inborn Metabolic diseases: diagnosis and treatment. Berlin/Heidelberg, Germany: Springer 2016.
[http://dx.doi.org/10.1007/978-3-662-49771-5]
[5]
Guerrero RB, Salazar D, Tanpaiboon P. Laboratory diagnostic approaches in metabolic disorders. Ann Transl Med 2018; 6(24): 470.
[http://dx.doi.org/10.21037/atm.2018.11.05] [PMID: 30740401]
[6]
Schrimpe-Rutledge AC, Codreanu SG, Sherrod SD, McLean JA. Untargeted metabolomics strategies-challenges and emerging directions. J Am Soc Mass Spectrom 2016; 27(12): 1897-905.
[http://dx.doi.org/10.1007/s13361-016-1469-y] [PMID: 27624161]
[7]
Bujak R, Struck-Lewicka W, Markuszewski MJ, Kaliszan R. Metabolomics for laboratory diagnostics. J Pharm Biomed Anal 2015; 113: 108-20.
[http://dx.doi.org/10.1016/j.jpba.2014.12.017] [PMID: 25577715]
[8]
Stark Z, Tan TY, Chong B, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with sus-pected monogenic disorders. Genet Med 2016; 18(11): 1090-6.
[http://dx.doi.org/10.1038/gim.2016.1] [PMID: 26938784]
[9]
Romão A, Simon PEA, Góes JEC, et al. Initial clinical presentation in cases of inborn errors of metabolism in a reference children’s hos-pital: Still a diagnostic challenge. Rev Paul Pediatr 2017; 35(3): 258-64.
[PMID: 28977297]
[10]
Kambhoj M. Inborn Errors of MetabolismNeurodevelopmental Disabilities: Clinical Care for Children and Young Adults - Google Books. Springer 2011; pp. 53-68.
[http://dx.doi.org/10.1007/978-94-007-0627-9_4]
[11]
DeBerardinis RJ, Thompson CB. Cellular metabolism and disease: What do metabolic outliers teach us? Cell 2012; 148(6): 1132-44.
[http://dx.doi.org/10.1016/j.cell.2012.02.032] [PMID: 22424225]
[12]
El-Hattab AW. Inborn errors of metabolism. Clin Perinatol 2015; 42(2): 413-39. x
[http://dx.doi.org/10.1016/j.clp.2015.02.010] [PMID: 26042912]
[13]
Reijngoud DJ. Flux analysis of inborn errors of metabolism. J Inherit Metab Dis 2018; 41(3): 309-28.
[http://dx.doi.org/10.1007/s10545-017-0124-5] [PMID: 29318410]
[14]
Vernon HJ. Inborn errors of metabolism: Advances in diagnosis and therapy. JAMA Pediatr 2015; 169(8): 778-82.
[http://dx.doi.org/10.1001/jamapediatrics.2015.0754] [PMID: 26075348]
[15]
Institute of medicine (US) committee on assessing interactions among social, behavioral, and genetic factors in health hernandezLM Blazer DG, Ed. Genes, Behavior, and the Social Environment: Moving Beyond the Nature/Nurture DebateWashington (DC): National Academies Press (US) 2006. 3. Washington (DC): National Academies Press (US) 2006; 3. Genetics and Health
[16]
Campeau PM, Scriver CR, Mitchell JJ. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism. Mol Genet Metab 2008; 95(1-2): 11-6.
[http://dx.doi.org/10.1016/j.ymgme.2008.07.001] [PMID: 18701331]
[17]
Saudubray JM, Garcia-Cazorla À. Inborn errors of metabolism overview: Pathophysiology, manifestations, evaluation, and management. Pediatr Clin North Am 2018; 65(2): 179-208.
[http://dx.doi.org/10.1016/j.pcl.2017.11.002] [PMID: 29502909]
[18]
Harthan AA. An introduction to pharmacotherapy for inborn errors of metabolism. J Pediatr Pharmacol Ther 2018; 23(6): 432-46.
[http://dx.doi.org/10.5863/1551-6776-23.6.432] [PMID: 30697128]
[19]
Saudubray JM. Clinical Approach to Inborn Errors of Metabolism in Paediatrics Inborn metabolic diseases. Berlin, Heidelberg: Springer 2012; pp. 3-54.
[http://dx.doi.org/10.1007/978-3-642-15720-2_1]
[20]
Saudubray JM, Charpentier C. Clinical phenotypes: Diagnosis/Algorithms. In: Scriver CR, Beaudet AL, Sly W, Valle D, Eds. The metabolic and molecular bases of inherited disease. 7th edition. McGraw-Hill 1995.
[21]
Martins AM. Inborn errors of metabolism: A clinical overview. Sao Paulo Med J 1999; 117(6): 251-65.
[http://dx.doi.org/10.1590/S1516-31801999000600006] [PMID: 10625889]
[22]
Mohamed S. Recognition and diagnostic approach to acute metabolic disorders in the neonatal period. Sudan J Paediatr 2011; 11(1): 20-8.
[PMID: 27493302]
[23]
Khalaf SM, El-Tellawy MM, Refat NH, El-Aal AMA. Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital. Egypt J Med Hum Genet 2019; 20(1): 29.
[http://dx.doi.org/10.1186/s43042-019-0030-5]
[24]
Chakrapani A, Cleary MA, Wraith JE. Detection of inborn errors of metabolism in the newborn. Arch Dis Child Fetal Neonatal Ed 2001; 84(3): F205-10.
[http://dx.doi.org/10.1136/fn.84.3.F205] [PMID: 11320051]
[25]
Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E. Lysosomal storage disorders in the newborn. Pediatrics 2009; 123(4): 1191-207.
[http://dx.doi.org/10.1542/peds.2008-0635] [PMID: 19336380]
[26]
Khangura SD, Tingley K, Chakraborty P, et al. Child and family experiences with inborn errors of metabolism: A qualitative interview study with representatives of patient groups. J Inherit Metab Dis 2016; 39(1): 139-47.
[http://dx.doi.org/10.1007/s10545-015-9881-1] [PMID: 26209272]
[27]
van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: Diagnosis and treatment. Orphanet J Rare Dis 2017; 12(1): 162.
[http://dx.doi.org/10.1186/s13023-017-0685-2] [PMID: 29025426]
[28]
Barta AG, Sumánszki C, Turgonyi Z, et al. Health related quality of life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire. Mol Genet Metab Rep 2020; 23: 100589.
[http://dx.doi.org/10.1016/j.ymgmr.2020.100589] [PMID: 32346514]
[29]
Vázquez Cordero C, Idígoras Ayastuy G, Galardi Andonegui MS, et al. Increased survival rates of children with cystic fibrosis. An Esp Pediatr 1990; 32(5): 407-12.
[PMID: 2205138]
[30]
Levy HL. Maternal phenylketonuria. Review with emphasis on pathogenesis. Enzyme 1987; 38(1-4): 312-20.
[http://dx.doi.org/10.1159/000469221] [PMID: 3326736]
[31]
Acosta PB, Wright L. Nurses’ role in preventing birth defects in offspring of women with phenylketonuria. J Obstet Gynecol Neonatal Nurs 1992; 21(4): 270-6.
[http://dx.doi.org/10.1111/j.1552-6909.1992.tb01737.x] [PMID: 1494969]
[32]
Friedman EG, Koch R, Azen C, et al. The International Collaborative Study on maternal phenylketonuria: Organization, study design and description of the sample. Eur J Pediatr 1996; 155(S1)(Suppl. 1): S158-61.
[http://dx.doi.org/10.1007/PL00014236] [PMID: 8828635]
[33]
Cipcic-Schmidt S, Trefz FK, Fünders B, Seidlitz G, Ullrich K. German maternal phenylketonuria study. Eur J Pediatr 1996; 155(S1)(Suppl. 1): S173-6.
[http://dx.doi.org/10.1007/PL00014241] [PMID: 8828639]
[34]
Brenton DP, Lilburn M. Maternal phenylketonuria. A study from the United Kingdom. Eur J Pediatr 1996; 155(S1)(Suppl. 1): S177-80.
[http://dx.doi.org/10.1007/PL00014242] [PMID: 8828640]
[35]
Koch R, Levy H, Hanley W, et al. Outcome implications of theinternational maternal phenylketonuria collaborative study (MPKUCS): 1994. Eur J Pediatr 1996; 155(S1)(Suppl. 1): S162-4.
[http://dx.doi.org/10.1007/PL00014238] [PMID: 8828636]
[36]
Krishnamoorthy U, Dickson M. Maternal phenylketonuria in pregnancy. Obstet Gynaecol 2005; 7(1): 28-33.
[http://dx.doi.org/10.1576/toag.7.1.028.27039]
[37]
Waisbren SE, Rohr F, Anastasoaie V, et al. Maternal phenylketonuria: Long-term outcomes in offspring and post-pregnancy maternal characteristics. JIMD Rep 2015; 21: 23-33.
[http://dx.doi.org/10.1007/8904_2014_365] [PMID: 25712380]
[38]
Ashe K, Kelso W, Farrand S, et al. Psychiatric and cognitive aspects of phenylketonuria: The limitations of diet and promise of new treatments. Front Psychiatry 2019; 10: 561.
[http://dx.doi.org/10.3389/fpsyt.2019.00561] [PMID: 31551819]
[39]
Kishnani PS, Austin SL, Arn P, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med 2010; 12(7): 446-63.
[http://dx.doi.org/10.1097/GIM.0b013e3181e655b6] [PMID: 20631546]
[40]
Özen H. Glycogen storage diseases: New perspectives. World J Gastroenterol 2007; 13(18): 2541-53.
[http://dx.doi.org/10.3748/wjg.v13.i18.2541] [PMID: 17552001]
[41]
Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: Clinical management update. Curr Opin Pediatr 2016; 28(6): 682-93.
[http://dx.doi.org/10.1097/MOP.0000000000000422] [PMID: 27653704]
[42]
Tran C. Inborn errors of fructose metabolism. what can we learn from them? Nutrients 2017; 9(4): 356.
[http://dx.doi.org/10.3390/nu9040356] [PMID: 28368361]
[43]
Summar ML, Mew NA. Inborn errors of metabolism with hyperammonemia: Urea cycle defects and related disorders. Pediatr Clin North Am 2018; 65(2): 231-46.
[http://dx.doi.org/10.1016/j.pcl.2017.11.004] [PMID: 29502911]
[44]
Savy N, Brossier D, Brunel-Guitton C, Ducharme-Crevier L, Du Pont-Thibodeau G, Jouvet P. Acute pediatric hyperammonemia: Current diagnosis and management strategies. Hepat Med 2018; 10: 105-15.
[http://dx.doi.org/10.2147/HMER.S140711] [PMID: 30254497]
[45]
Mauhin W, Habarou F, Gobin S, et al. Update on lysinuric protein intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood. Orphanet J Rare Dis 2017; 12(1): 3.
[http://dx.doi.org/10.1186/s13023-016-0550-8] [PMID: 28057010]
[46]
Riccio E, Pisani A. Fanconi syndrome with lysinuric protein intolerance. Clin Kidney J 2014; 7(6): 599-601.
[http://dx.doi.org/10.1093/ckj/sfu107] [PMID: 25859380]
[47]
Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis 2013; 1(1): e27475.
[http://dx.doi.org/10.4161/rdis.27475] [PMID: 25003018]
[48]
Reddy OJ, Gafoor JA, Suresh B, Prasad PO. Alkaptonuria with review of literature. J Dr NTR Univ Health Sci 2014; 3(2): 125-9.
[http://dx.doi.org/10.4103/2277-8632.134884]
[49]
Watts RWE, Watts RA. Alkaptonuria: A 60-yr follow-up. Rheumatology (Oxford) 2007; 46(2): 358-9.
[http://dx.doi.org/10.1093/rheumatology/kel345] [PMID: 17116657]
[50]
Damarla N, Linga P, Goyal M, Tadisina SR, Reddy GS, Bommisetti H. Alkaptonuria: A case report. Indian J Ophthalmol 2017; 65(6): 518-21.
[http://dx.doi.org/10.4103/ijo.IJO_337_16] [PMID: 28643719]
[51]
Sanji RR, Reddy KE, Channegowda C. Alkaptonuria: Otolaryngologic clues to diagnosis. Indian J Otol 2011; 17(1): 22-5.
[http://dx.doi.org/10.4103/0971-7749.85795]
[52]
Sharma P, Gupta S, Kumar P, Sharma R, Mahapatra TK, Gupta G. Inborn error of metabolism screening in neonates. Natl J Physiol Pharm Pharmacol 2019; 9(3): 196-200.
[http://dx.doi.org/10.5455/njppp.2019.9.1237608012019]
[53]
Nafees M, Muazzam M. Alkaptonuria: An inborn error of amino acid metabolism. Annals 2008; 14(2): 68-71.
[54]
Ersoy EO, Rama D, Ünal Ö, Sivri S, Topeli A. Glutaric aciduria type 2 presenting with acute respiratory failure in an adult. Respir Med Case Rep 2015; 15: 92-4.
[http://dx.doi.org/10.1016/j.rmcr.2015.02.009] [PMID: 26236614]
[55]
Santos BL, Souza CF, Schuler-Faccini L, et al. Glycogen storage disease type I: Clinical and laboratory profile. J Pediatr (Rio J) 2014; 90(6): 572-9.
[http://dx.doi.org/10.1016/j.jped.2014.02.005] [PMID: 25019649]
[56]
Hoffmann GF, Smit PA, Schoser B. Glycogen storage diseases of all types. J Inherit Metab Dis 2015; 38(3): 389-90.
[http://dx.doi.org/10.1007/s10545-015-9848-2] [PMID: 25940909]
[57]
Weinstein DA, Steuerwald U, DeSouza CFM, Derks TGJ. Glycogen storage diseases and inherited disorders of gluconeogenesis inborn errors of metabolism with hypoglycemia. Pediatric Clinics 2018; 65(2): 247-65.
[PMID: 29502912]
[58]
Derks TGJ, Fischinger C, deSouza M. Glycogen storage diseases: Next-generation medicine. J Inborn Errors Metab Screen 2017; 5: 1-2.
[http://dx.doi.org/10.1177/2326409817733011]
[59]
Margaret C, David W. Glycogen storage diseases: Diagnosis, treatment and outcome. Transl Sci Rare Dis 2016; 1(1): 45-72.
[http://dx.doi.org/10.3233/TRD-160006]
[60]
Byers SL, Ficicioglu C. Infant with cardiomyopathy: When to suspect inborn errors of metabolism? World J Cardiol 2014; 6(11): 1149-55.
[http://dx.doi.org/10.4330/wjc.v6.i11.1149] [PMID: 25429327]
[61]
Lloyd DFA, Vara R, Mathur S. Cardiac manifestations of inherited metabolic disease in children. Pediatr Int 2017; 59(5): 525-9.
[http://dx.doi.org/10.1111/ped.13272]
[62]
Das AM, Steuerwald U, Illsinger S. Inborn errors of energy metabolism associated with myopathies. BioMed Res Inter 2010.
[http://dx.doi.org/10.1155/2010/340849]
[63]
Bollig G. Sports and McArdle disease (Glycogen storage disease type V): Danger or Therapy?. Metabolic Disorders. InTech Open 2019.
[http://dx.doi.org/10.5772/intechopen.89204]
[64]
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 2005; 7(2): 119-23.
[http://dx.doi.org/10.1097/01.GIM.0000154300.84107.75] [PMID: 15714079]
[65]
Cachón-González MB, Zaccariotto E, Cox TM. Genetics and therapies for GM2 gangliosidosis. Curr Gene Ther 2018; 18(2): 68-89.
[http://dx.doi.org/10.2174/1566523218666180404162622] [PMID: 29618308]
[66]
Hurowitz GI, Silver JM, Brin MF, Williams DT, Johnson WG. Neuropsychiatric aspects of adult-onset Tay-Sachs disease: Two case reports with several new findings. J Neuropsychiatry Clin Neurosci 1993; 5(1): 30-6.
[http://dx.doi.org/10.1176/jnp.5.1.30] [PMID: 8428133]
[67]
Saleh OS. Late Onset Tay-Sachs disease presenting as a brief psychotic disorder with catatonia: A case report and review of the literature. Jefferson J Psychiatry 2012; 15(1): 4.
[68]
Tutor JC. Biochemical characterization of the GM2 gangliosidosis B1 variant. Braz J Med Biol Res 2004; 37(6): 777-83.
[http://dx.doi.org/10.1590/S0100-879X2004000600001] [PMID: 15264019]
[69]
Gualdrón-Frías CA, Calderón-Nossa LT. Tay-Sachs disease. Rev Fac Med (Caracas) 2019; 67(3): 323-9.
[http://dx.doi.org/10.15446/revfacmed.v67n3.69742]
[70]
Osher E, Fattal-Valevski A, Sagie L, et al. Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: An open label, extended pilot study. Orphanet J Rare Dis 2015; 10(1): 45.
[http://dx.doi.org/10.1186/s13023-015-0260-7] [PMID: 25896637]
[71]
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: A 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med 2009; 11(6): 425-33.
[http://dx.doi.org/10.1097/GIM.0b013e3181a1b5c5] [PMID: 19346952]
[72]
Engelen M, Kemp S, de Visser M, et al. X-linked adrenoleukodystrophy (X-ALD): Clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 2012; 7(1): 51.
[http://dx.doi.org/10.1186/1750-1172-7-51] [PMID: 22889154]
[73]
Lourenço CM. Simão Gustavo Novelino, Santos AC, Marques Jr Marques. X-linked adrenoleukodystrophy in heterozygous female patients: Women are not just carriers. Arq Neuro-Psiquiatr (São Paulo) 2012; 70: 7.
[74]
Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie 2014; 98: 135-42.
[http://dx.doi.org/10.1016/j.biochi.2013.11.023] [PMID: 24316281]
[75]
Bono W, Moutie O, Benomar A, et al. La maladie de Wilson. Etude clinique, thérapeutique et évolutive de 21 cas. Rev Med Interne 2002; 23(5): 419-31.
[http://dx.doi.org/10.1016/S0248-8663(02)00589-1] [PMID: 12064213]
[76]
Pfeiffer RF. Wilson’s Disease. Semin Neurol 2007; 27(2): 123-32.
[http://dx.doi.org/10.1055/s-2007-971173] [PMID: 17390257]
[77]
Li H, Tao R, Liu L, Shang S. Population screening and diagnostic strategies in screening family members of Wilson’s disease patients. Ann Transl Med 2019; 7(S2)(Suppl. 2): S59.
[http://dx.doi.org/10.21037/atm.2019.03.54] [PMID: 31179296]
[78]
Patterson M. Niemann-Pick Disease Type CGeneReviews® , WA. University of WashingtonSeattle 2000; pp. 1993-2020. [Updat-ed 2019 Aug 29
[79]
Sévin M, Lesca G, Baumann N, et al. The adult form of Niemann-Pick disease type C. Brain 2007; 130(Pt 1): 120-33.
[PMID: 17003072]
[80]
Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010; 5(1): 16.
[http://dx.doi.org/10.1186/1750-1172-5-16] [PMID: 20525256]
[81]
Mannan AASR, Sharma MC, Shrivastava P, et al. Leigh’s syndrome. Indian J Pediatr 2004; 71(11): 1029-33.
[http://dx.doi.org/10.1007/BF02828121] [PMID: 15572826]
[82]
Sofou K, De Coo IFM, Isohanni P, et al. A multicenter study on Leigh syndrome: Disease course and predictors of survival. Orphanet J Rare Dis 2014; 9(1): 52.
[http://dx.doi.org/10.1186/1750-1172-9-52] [PMID: 24731534]
[83]
Schubert Baldo M, Vilarinho L. Molecular basis of Leigh syndrome: A current look. Orphanet J Rare Dis 2020; 15(1): 31.
[http://dx.doi.org/10.1186/s13023-020-1297-9] [PMID: 31996241]
[84]
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Adult leukodystrophies: A step-by-step diagnostic approach. Radiographics 2019; 39(1): 153-68.
[http://dx.doi.org/10.1148/rg.2019180081] [PMID: 30620693]
[85]
Lam YY, Ravussin E. Analysis of energy metabolism in humans: A review of methodologies. Mol Metab 2016; 5(11): 1057-71.
[http://dx.doi.org/10.1016/j.molmet.2016.09.005] [PMID: 27818932]
[86]
Pang G, Xie J, Chen Q, Hu Z. Energy intake, metabolic homeostasis, and human health. Food Sci Hum Wellness 2014; 3(4): 89-03.
[http://dx.doi.org/10.1016/j.fshw.2015.01.001]
[87]
Miles L. Physical activity and health. Nutr Bull 2007; 32(4): 314-63.
[http://dx.doi.org/10.1111/j.1467-3010.2007.00668.x]
[88]
Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC. Hypoglycaemia related to inherited metabolic diseases in adults. Orphanet J Rare Dis 2012; 7(1): 26.
[http://dx.doi.org/10.1186/1750-1172-7-26] [PMID: 22587661]
[89]
Jeanmonod R, Asuka E, Jeanmonod D. Inborn errors of metabolism StatPearls. Treasure Island, FL: StatPearls Publishing 2020. Updated 2020 May 17
[90]
Tarasenko TN, McGuire PJ. The liver is a metabolic and immunologic organ: A reconsideration of metabolic decompensation due to infection in inborn errors of metabolism (IEM). Mol Genet Metab 2017; 121(4): 283-8.
[http://dx.doi.org/10.1016/j.ymgme.2017.06.010] [PMID: 28666653]
[91]
Mordaunt D, Cox D, Fuller M. Metabolomics to improve the diagnostic efficiency of inborn errors of metabolism. Int J Mol Sci 2020; 21(4): 1195.
[http://dx.doi.org/10.3390/ijms21041195] [PMID: 32054038]
[92]
Yubero D, Artuch R. NGS for metabolic disease diagnosis. EJIFCC 2018; 29(3): 227-9.
[PMID: 30479609]
[93]
Ross LF. Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy. Am J Med Genet A 2006; 140(8): 914-22.
[http://dx.doi.org/10.1002/ajmg.a.31165] [PMID: 16528755]
[94]
la Marca G, Canessa C, Giocaliere E, et al. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. J Allergy Clin Immunol 2013; 131(6): 1604-10.
[http://dx.doi.org/10.1016/j.jaci.2012.08.054] [PMID: 23280131]
[95]
Wiens K, Berry SA, Choi H, et al. A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy. Am J Med Genet A 2019; 179(7): 1205-13.
[http://dx.doi.org/10.1002/ajmg.a.61171] [PMID: 31074578]
[96]
Recommended Uniform Screening Panel. Available from: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html
[97]
Landa RJ. Efficacy of early interventions for infants and young children with, and at risk for, autism spectrum disorders. Int Rev Psychiatry 2018; 30(1): 25-39.
[http://dx.doi.org/10.1080/09540261.2018.1432574] [PMID: 29537331]
[98]
Raghuveer TS, Garg U, Graf WD. Inborn errors of metabolism in infancy and early childhood: An update. Am Fam Physician 2006; 73(11): 1981-90.
[PMID: 16770930]
[99]
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.
[http://dx.doi.org/10.1186/s12887-018-1090-2] [PMID: 29534692]
[100]
Dogan E, Uysal S, Ozturk Y, Arslan N, Coker C. Selective screening for inborn errors of metabolism: A report of six years’ experience. Iran J Pediatr 2017; 27(5): e11323.
[http://dx.doi.org/10.5812/ijp.11323]
[101]
Urinary metabolic profiling for detection of metabolic disorders November 2008 MSAC application 1114 Assessment report. Available from: http://www.msac.gov.au/internet/msac/publishingnsf/Content/3F228B5A86A7FA3ACA25801000123B43/$File/1114-Assessment-Report.pdf
[102]
Troisi J, Cavallo P, Colucci A, et al. Metabolomics in genetic testing. Adv Clin Chem 2020; 94: 85-153.
[http://dx.doi.org/10.1016/bs.acc.2019.07.009] [PMID: 31952575]
[103]
Dwivedi P, Schultz AJ, Hill HH. Metabolic profiling of human blood by high resolution Ion Mobility Mass Spectrometry (IM-MS). Int J Mass Spectrom 2010; 298(1-3): 78-90.
[http://dx.doi.org/10.1016/j.ijms.2010.02.007] [PMID: 21113320]
[104]
Ho CS, Lam CW, Chan MH, et al. Electrospray ionisation mass spectrometry: Principles and clinical applications. Clin Biochem Rev 2003; 24(1): 3-12.
[PMID: 18568044]
[105]
Pitt JJ. Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistry. Clin Biochem Rev 2009; 30(1): 19-34.
[PMID: 19224008]
[106]
Ray SK, Mukherjee S. Molecular and biochemical investigations of inborn errors of metabolism-altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria. Free Radic Res 2021; 55(6): 627-40.
[http://dx.doi.org/10.1080/10715762.2021.1877286] [PMID: 33504220]
[107]
Wortmann SB, Rodenburg RJT, Jonckheere A, et al. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: A diagnostic strategy. Brain 2009; 132(Pt 1): 136-46.
[http://dx.doi.org/10.1093/brain/awn296] [PMID: 19015156]
[108]
Miller MJ, Kennedy AD, Eckhart AD, et al. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis 2015; 38(6): 1029-39.
[http://dx.doi.org/10.1007/s10545-015-9843-7] [PMID: 25875217]
[109]
Filocamo M, Morrone A. Lysosomal storage disorders: Molecular basis and laboratory testing. Hum Genomics 2011; 5(3): 156-69.
[http://dx.doi.org/10.1186/1479-7364-5-3-156] [PMID: 21504867]
[110]
Walkley SU, Davidson CD, Jacoby J, et al. Fostering collaborative research for rare genetic disease: The example of niemann-pick type C disease. Orphanet J Rare Dis 2016; 11(1): 161.
[http://dx.doi.org/10.1186/s13023-016-0540-x] [PMID: 27903269]
[111]
Payne EM, Holland-Moritz DA, Sun S, Kennedy RT. High-throughput screening by droplet microfluidics: Perspective into key challenges and future prospects. Lab Chip 2020; 20(13): 2247-62.
[http://dx.doi.org/10.1039/D0LC00347F] [PMID: 32500896]
[112]
Garrod AE. Alkaptonuria: A simple method for the extraction of Homogentisinic Acid from the Urine. J Physiol 1899; 23(6): 512-4.
[http://dx.doi.org/10.1113/jphysiol.1899.sp000741] [PMID: 16992471]
[113]
Henry RJ, Sobel C, Chiamori N. Method for determination of serum phenylalanine with use of the Kapeller-Adler reaction. AMA J Dis Child 1957; 94(6): 604-8.
[PMID: 13478294]
[114]
Hannah-Shmouni F, Stratakis CA. An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency. Rev Endocr Metab Disord 2018; 19(1): 53-67.
[http://dx.doi.org/10.1007/s11154-018-9447-2] [PMID: 29956047]
[115]
Di Risi T, Vinciguerra R, Cuomo M, et al. DNA methylation impact on Fabry disease. Clin Epigenetics 2021; 13(1): 24.
[http://dx.doi.org/10.1186/s13148-021-01019-3] [PMID: 33531072]
[116]
Puentes-Tellez MA, Lerma-Barbosa PA, Garzón-Jaramillo RG, et al. A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia. Heliyon 2020; 6(3): e03635.
[http://dx.doi.org/10.1016/j.heliyon.2020.e03635] [PMID: 32258481]
[117]
Di Resta C, Galbiati S, Carrera P, Ferrari M. Next-generation sequencing approach for the diagnosis of human diseases: Open challenges and new opportunities. EJIFCC 2018; 29(1): 4-14.
[PMID: 29765282]
[118]
Hand JL, Runke CK, Hodge JC. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray. J Am Acad Dermatol 2015; 72(4): 617-27.
[http://dx.doi.org/10.1016/j.jaad.2014.12.020] [PMID: 25659225]
[119]
Coene KLM, Kluijtmans LAJ, van der Heeft E, et al. Next-generation metabolic screening: Targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. J Inherit Metab Dis 2018; 41(3): 337-53.
[http://dx.doi.org/10.1007/s10545-017-0131-6] [PMID: 29453510]
[120]
Rodenburg RJ. The functional genomics laboratory: Functional validation of genetic variants. J Inherit Metab Dis 2018; 41(3): 297-307.
[http://dx.doi.org/10.1007/s10545-018-0146-7] [PMID: 29445992]
[121]
Tebani A, Abily-Donval L, Afonso C, Marret S, Bekri S. Clinical metabolomics: The new metabolic window for inborn errors of metabolism investigations in the post-genomic era. Int J Mol Sci 2016; 17(7): 1167.
[http://dx.doi.org/10.3390/ijms17071167] [PMID: 27447622]
[122]
Allwood JW, Ellis DI, Goodacre R. Metabolomic technologies and their application to the study of plants and plant-host interactions. Physiol Plant 2008; 132(2): 117-35.
[PMID: 18251855]
[123]
Fiehn O. Metabolomics by gas chromatography-mass spectrometry: Combined targeted and untargeted profiling. Curr Protoc Mol Biol 2016; 114: 30.4.1-30.4.32.
[124]
Baumgartner C, Böhm C, Baumgartner D, et al. Supervised machine learning techniques for the classification of metabolic disorders in newborns. Bioinformatics 2004; 20(17): 2985-96.
[http://dx.doi.org/10.1093/bioinformatics/bth343] [PMID: 15180934]
[125]
Schaefer J, Lehne M, Schepers J, Prasser F, Thun S. The use of machine learning in rare diseases: A scoping review. Orphanet J Rare Dis 2020; 15(1): 145.
[http://dx.doi.org/10.1186/s13023-020-01424-6] [PMID: 32517778]
[126]
Monteiro MS, Carvalho M, Bastos ML, Guedes de Pinho P. Metabolomics analysis for biomarker discovery: Advances and challenges. Curr Med Chem 2013; 20(2): 257-71.
[http://dx.doi.org/10.2174/092986713804806621] [PMID: 23210853]
[127]
Ismail IT, Showalter MR, Fiehn O. Inborn errors of metabolism in the era of untargeted metabolomics and lipidomics. Metabolites 2019; 9(10): 242.
[http://dx.doi.org/10.3390/metabo9100242] [PMID: 31640247]
[128]
Gambello MJ, Li H. Current strategies for the treatment of inborn errors of metabolism. J Genet Genomics 2018; 45(2): 61-70.
[http://dx.doi.org/10.1016/j.jgg.2018.02.001] [PMID: 29500085]
[129]
Uhlmann WR, Schuette JL, Yashar BM, Eds. The Guide to Genetic Counseling. 2nd ed. New Jersey: Wiley-Blackwell 2009.
[130]
Weber SL, Segal S, Packman W. Inborn errors of metabolism: Psychosocial challenges and proposed family systems model of intervention. Mol Genet Metab 2012; 105(4): 537-41.
[http://dx.doi.org/10.1016/j.ymgme.2012.01.014] [PMID: 22532988]
[131]
Witalis E, Mikoluc B, Motkowski R, et al. Polish Society of Phenylketonuria, Phenylketonuria patients’ andtheir parents’ knowledge and attitudes to the daily diet - multi-centre study. Nutr Metab (Lond) 2017; 14: 57.
[http://dx.doi.org/10.1186/s12986-017-0207-1] [PMID: 28824701]
[132]
Bosch AM, Burlina A, Cunningham A, et al. Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet J Rare Dis 2015; 10(1): 80.
[http://dx.doi.org/10.1186/s13023-015-0294-x] [PMID: 26084935]
[133]
Abi-Wardé MT, Roda C, Arnoux JB, et al. Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease. J Inherit Metab Dis 2017; 40(6): 783-92.
[http://dx.doi.org/10.1007/s10545-017-0083-x] [PMID: 28905140]
[134]
Cazzorla C, Bensi G, Biasucci G, et al. Living with phenylketonuria in adulthood: The PKU ATTITUDE study. Mol Genet Metab Rep 2018; 16: 39-45.
[http://dx.doi.org/10.1016/j.ymgmr.2018.06.007] [PMID: 30069431]
[135]
Enns GM, Packman W. The adolescent with an inborn error of metabolism: Medical issues and transition to adulthood. Adolesc Med 2002; 13(2): 315-29. vii.
[PMID: 11986039]

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