Login Register Cart 0
Generic placeholder image

Endocrine, Metabolic & Immune Disorders - Drug Targets

Editor-in-Chief

ISSN (Print): 1871-5303
ISSN (Online): 2212-3873

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe
Review Article

Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis

Author(s): Alok Bharadwaj*, Nitin Wahi and Aditya Saxena

Volume 21, Issue 4, 2021

Published on: 23 December, 2020

Page: [592 - 616] Pages: 25

DOI: 10.2174/1871530321666201223110918

Price: $65

Abstract

Inborn errors of metabolism (IEM) are a heterogeneous group of rare genetic disorders that are generally transmitted as autosomal or X-linked recessive disorders. These defects arise due to mutations associated with specific gene(s), especially the ones associated with key metabolic enzymes. These enzymes or their product(s) are involved in various metabolic pathways, leading to the accumulation of intermediary metabolite(s), reflecting their toxic effects upon mutations. The diagnosis of these metabolic disorders is based on the biochemical analysis of the clinical manifestations produced and their molecular mechanism. Therefore, it is imperative to devise diagnostic tests with high sensitivity and specificity for early detection of IEM. Recent advances in biochemical and polymerase chain reaction-based genetic analysis along with pedigree and prenatal diagnosis can be life-saving in nature. The latest development in exome sequencing for rapid diagnosis and enzyme replacement therapy would facilitate the successful treatment of these metabolic disorders in the future. However, the longterm clinical implications of these genetic manipulations is still a matter of debate among intellectuals and requires further research.

Keywords: Diagnosis, clinical variations, molecular medicine, inborn error of metabolism, prophylaxis, newborns.

« Previous Next »
Graphical Abstract

[1]
Griffith, F. The significance of pneumococcal types. J. Hyg. (Lond.), 1928, 27(2), 113-159.
[http://dx.doi.org/10.1017/S0022172400031879] [PMID: 20474956]
[2]
Hershey, A.D.; Chase, M. Independent functions of viral protein and nucleic acid in growth of bacteriophage. J. Gen. Physiol., 1952, 36(1), 39-56.
[http://dx.doi.org/10.1085/jgp.36.1.39] [PMID: 12981234]
[3]
Garrod, A.E. Inborn errors of metabolism; Oxford University Press: London, 1923.
[4]
Alfadhel, M.; Al-Thihli, K.; Moubayed, H.; Eyaid, W.; Zytkovicz, T.H. Drug treatment of inborn errors of metabolism: a systematic review; Arch Dis Childh, 2013.
[5]
Kamath, S.S. Newborn Screening in India. Indian Pediatr., 2015, 52(5), 373-374.
[http://dx.doi.org/10.1007/s13312-015-0639-5] [PMID: 26061918]
[6]
Rama Devi, A.R.; Naushad, S.M. Newborn screening in India. Indian J. Pediatr., 2004, 71(2), 157-160.
[http://dx.doi.org/10.1007/BF02723099] [PMID: 15053381]
[7]
Ferreira, C.R.; van Karnebeek, C.D.M.; Vockley, J.; Blau, N. A proposed nosology of inborn errors of metabolism. Genet. Med., 2019, 21(1), 102-106.
[http://dx.doi.org/10.1038/s41436-018-0022-8] [PMID: 29884839]
[8]
Saudubray, J.M.; 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]
[9]
Krogan, N.J.; Lippman, S.; Agard, D.A.; Ashworth, A.; Ideker, T. The cancer cell map initiative: defining the hallmark networks of cancer. Mol. Cell, 2015, 58(4), 690-698.
[http://dx.doi.org/10.1016/j.molcel.2015.05.008] [PMID: 26000852]
[10]
Woidy, M.; Muntau, A.C.; Gersting, S.W. Inborn errors of metabolism and the human interactome: a systems medicine approach. J. Inherit. Metab. Dis., 2018, 41(3), 285-296.
[http://dx.doi.org/10.1007/s10545-018-0140-0] [PMID: 29404805]
[11]
Sun, A.; Lam, C.; Wong, D.A. Expanded newborn screening for inborn errors of metabolism: overview and outcomes. Adv. Pediatr., 2012, 59(1), 209-245.
[http://dx.doi.org/10.1016/j.yapd.2012.04.013] [PMID: 22789580]
[12]
Williams, R.A.; Mamotte, C.D.S.; Burnett, J.R. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin. Biochem. Rev., 2008, 29(1), 31-41.
[PMID: 18566668]
[13]
Canton, M.; Gall, D.L.; Feillet, F.; Bonnemains, C.; Roy, A. Neuropsychological profile of children with early and continuously treated Phenylketonuria: systematic review and future approaches. J. Int. Neuropsychol. Soc., 2019, 25(6), 624-643.
[http://dx.doi.org/10.1017/S1355617719000146] [PMID: 31030702]
[14]
Hanley, W.B. Adult phenylketonuria. Am. J. Med., 2004, 117(8), 590-595.
[http://dx.doi.org/10.1016/j.amjmed.2004.03.042] [PMID: 15465508]
[15]
Blau, N.; Longo, N. Alternative therapies to address the unmet medical needs of patients with phenylketonuria. Expert Opin. Pharmacother., 2015, 16(6), 791-800.
[http://dx.doi.org/10.1517/14656566.2015.1013030] [PMID: 25660215]
[16]
Abiri, M.; Saei, H.; Eghbali, M.; Karamzadeh, R.; Shirzadeh, T.; Sharifi, Z.; Zeinali, S. Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations. Metab. Brain Dis., 2019, 34(4), 1145-1156.
[http://dx.doi.org/10.1007/s11011-019-00435-y] [PMID: 31119508]
[17]
Chuang, D.T.; Shih, V.E. Maple syrup urine disease (branched-chain ketoaciduria). The Metabolic and Molecular Bases of Inherited Disease. Scriver, C.R.; Beaudet, A.L; Sly, W.S.; and Valle, D., Eds.; ), 8th editionMcGraw-Hill: New York, NY, 2001, pp. 1971-2005.
[18]
Hallam, P.; Lilburn, M.; Lee, P.J. A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD). J. Inherit. Metab. Dis., 2005, 28(5), 665-672.
[http://dx.doi.org/10.1007/s10545-005-0061-6] [PMID: 16151896]
[19]
Scriver, C.R.; Mackenzie, S.; Clow, C.L.; Delvin, E. Thiamineresponsive maple-syrup-urine disease. Lancet, 1971, 1(7694), 310-312.
[http://dx.doi.org/10.1016/S0140-6736(71)91041-5] [PMID: 4100151]
[20]
Strauss, K.A.; Mazariegos, G.V.; Sindhi, R.; Squires, R.; Finegold, D.N.; Vockley, G.; Robinson, D.L.; Hendrickson, C.; Virji, M.; Cropcho, L.; Puffenberger, E.G.; McGhee, W.; Seward, L.M.; Morton, D.H. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am. J. Transplant., 2006, 6(3), 557-564.
[http://dx.doi.org/10.1111/j.1600-6143.2005.01209.x] [PMID: 16468966]
[21]
Grompe, M. Disorders of tyrosine metabolism.Available at: wwwuptodatecom/contents/disorders-of-tyrosine- metabolism source=search result & amp; selected Title=1%7E150 (Accessed 2010).,
[22]
Nyhan, W.; Ozand, P. Atlas of metabolic diseases, 1st Ed; Chapman and Hall Medical: London, 1998, pp. 147-159.
[23]
Masurel-Paulet, A.; Poggi-Bach, J.; Rolland, M.O.; Bernard, O.; Guffon, N.; Dobbelaere, D.; Sarles, J.; de Baulny, H.O.; Touati, G. NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J. Inherit. Metab. Dis., 2008, 31(1), 81-87.
[http://dx.doi.org/10.1007/s10545-008-0793-1] [PMID: 18214711]
[24]
Patil, A.A.; Ashwath, D. Diagnosis and treatment of tyrosinemia: a case series. Clin Pediatr OA, 2018, 3, 139.
[http://dx.doi.org/10.4172/2572-0775.1000143]
[25]
Huang, C-H.; Liu, M-T. Tyrosinemia type II - A case report. Zhonghua Pifuke Yixue Zazhi, 2006, 24, 42-46.
[26]
Whaley, L. Understanding inherited disorders; CV Mosby: St Louis, 1974.
[27]
Smith, E.J. RNC, B.S.N. Nurse Practioner, 1980, 8-10..
[http://dx.doi.org/10.1097/00006205-198003000-00002 ] [PMID: 7360422]
[28]
Berry, G.T. Classical Galactosemia and clinical variant Galactosemia. Seattle (WA): University of Washington, Settle, 1993-2020.,
[29]
Derks, T.G.J.; De-Souza, C.F.M. Glycogen storage diseases: next-generation medicine. J. Inborn Errors Metabol. and Screening, 2017, 5, 1-2.
[http://dx.doi.org/10.1177/2326409817733011]]
[30]
Chen, Y.T. Glycogen storage diseases. The Metabolic and Molecular Bases of Inherited Disease New York; Scriver, C.; Beaudet, A; Sly, W., Ed.; McGraw-Hill: NY, 2001, pp. 1521-1555.
[31]
Walter, J.H.; Labrune, P.; Laforet, P. The Glycogen Storage Diseases and Related Disorders In: Inborn Metabolic Diseases: Diagnosis and Treatment, 6th ed; Saudubray, J.M.; van den Berghe, G.; Walter, J.H., Eds.; Springer-Verlag: Heidelberg, Germany, 2016, pp. 121-135..
[http://dx.doi.org/10.1007/978-3-662-49771-5_5]
[32]
Koeberl, D.D.; Kishnani, P.S.; Chen, Y.T. Glycogen storage disease types I and II: treatment updates. J. Inherit. Metab. Dis., 2007, 30(2), 159-164.
[http://dx.doi.org/10.1007/s10545-007-0519-9] [PMID: 17308886]
[33]
Havel, P.J. Dietary fructose: implications for dysregulation of energy homeostasis and lipid/carbohydrate metabolism. Nutr. Rev., 2005, 63(5), 133-157.
[http://dx.doi.org/10.1111/j.1753-4887.2005.tb00132.x] [PMID: 15971409]
[34]
Vos, M.B.; Kimmons, J.E.; Gillespie, C.; Welsh, J.; Blanck, H.M. Dietary fructose consumption among US children and adults: the Third national health and nutrition examination survey. Medscape J. Med., 2008, 10(7), 160.
[PMID: 18769702]
[35]
Hwang, J.J.; Jiang, L.; Hamza, M.; Dai, F.; Belfort-DeAguiar, R.; Cline, G.; Rothman, D.L.; Mason, G.; Sherwin, R.S. The human brain produces fructose from glucose. JCI Insight, 2017, 2(4)e90508
[http://dx.doi.org/10.1172/jci.insight.90508] [PMID: 28239653]
[36]
Saudubray, J.M.; Berghe, G.V.D.; Walter, J.H. Disorders of fructose metabolism. In: Inborn Metabolic Diseases: Diagnosis and Treatment, 5th ed; Springer: London, UK, 2012, pp. 157-164.
[http://dx.doi.org/10.1007/978-3-642-15720-2]
[37]
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]
[38]
Curran, B.J.; Havill, J.H. Hepatic and renal failure associated with amiodarone infusion in a patient with hereditary fructose intolerance. Crit. Care Resusc., 2002, 4(2), 112-115.
[PMID: 16573414]
[39]
Müller, P.; Meier, C.; Böhme, H.J.; Richter, T. Fructose breath hydrogen test--is it really a harmless diagnostic procedure? Dig. Dis., 2003, 21(3), 276-278.
[http://dx.doi.org/10.1159/000073348] [PMID: 14571104]
[40]
Saudubray, J.M.; Baumgartner, M.R.; Walter, J.H. Disorders of Fructose Metabolism. In: Inborn Metabolic Diseases: Diagnosis and Treatment. Springer: Berlin, Germany, 2016, 6, pp. 165-167..
[41]
Douillard, C.; Mention, K.; Dobbelaere, D.; Wemeau, J.L.; Saudubray, J.M.; Vantyghem, M.C. Hypoglycaemia related to inherited metabolic diseases in adults. Orphanet J. Rare Diseas, 2012, 7(26)
[http://dx.doi.org/10.1186/1750-1172-7-26]]
[42]
Haymond, M.W. Hypoglycemia in infants and children endocrinology and metabolism. Endocrinol. Metab. Clin. North Am., 1988, 18(1), 211-252.
[PMID: 2645128]
[43]
Savaiano, D.A. Lactose digestion from yogurt: mechanism and relevance. Am. J. Clin. Nutr., 2014, 99(5), 1251-1255.
[http://dx.doi.org/10.3945/ajcn.113.073023]
[44]
Kolars, J.C.; Levitt, M.D.; Aouji, M.; Savaiano, D.A. Yogurt--an autodigesting source of lactose. N. Engl. J. Med., 1984, 310(1), 1-3.
[http://dx.doi.org/10.1056/NEJM198401053100101] [PMID: 6417539]
[45]
Endo, F.; Matsuura, T.; Yanagita, K.; Matsuda, I. Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood. J. Nutr., 2004, 134(6)(Suppl.), 1605S-1609S.
[http://dx.doi.org/10.1093/jn/134.6.1605S] [PMID: 15173438]
[46]
Summar, M.; Tuchman, M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J. Pediatr., 2001, 138(1)(Suppl.), S6-S10.
[http://dx.doi.org/10.1067/mpd.2001.111831] [PMID: 11148544]
[47]
Urea cycle disorders conference group. Consensus statement from a conference for the management of patients with urea cycle disorders. J. Pediatr., 2001, 138(1)(Suppl.), S1-S5.
[http://dx.doi.org/10.1067/mpd.2001.111830] [PMID: 11148543]
[48]
Ozand, P.T.; Gascon, G.G. Organic acidurias: a review. Part 1. J. Child Neurol., 1991, 6(3), 196-219.
[http://dx.doi.org/10.1177/088307389100600302] [PMID: 1875022]
[49]
Chalmers, R.A.; Lawson, A.M. Organic acids in man Analytical chemistry, biochemistry and diagnosis of the organic acidurias, 1st ed; Chapman and Hall: London, 1982.
[50]
Wajner, M.; Wannmacher, C.M.D.; Gaidzinski, D.; Dutra-Filho, C.S. Detection of inborn errors of metabolism in patients of pediatric intensive care units of Porto Alegre, Brazil Comparison between the prevalence of such disturbances in a selected and an unselected sample. Brazilian. J. Genetics, 1986, 9, 331-340.
[51]
Wajner, M.; Barschak, A.G.; Luft, A.P.; Pires, R.; Grillo, E.; Lohr, A.; Funayama, C.; Sanseverino, M.T.; Giugliani, R.; Vargas, C.R. Organic aciduria: diagnosis in high-risk Brazilian patients. J. Pediatr. (Rio J.), 2001, 77(5), 401-406.
[http://dx.doi.org/10.2223/JPED.282] [PMID: 14647845]
[52]
Hoffmann, G.F. Selective screening for inborn errors of metabolism--past, present and future. Eur. J. Pediatr., 1994, 153(7)(Suppl. 1), S2-S8.
[http://dx.doi.org/10.1007/BF02138769] [PMID: 7957381]
[53]
Scriver, C.R.; Beaudet, A.L.; Sly, W.S.; Valle, D. The metabolic and molecular bases of inherited disease, 7th ed; Mc Graw-Hill: New York, 2001, p. 1.
[54]
Rinaldo, P.; Matern, D.; Bennett, M.J. Fatty acid oxidation disorders. Annu. Rev. Physiol., 2002, 64, 477-502.
[http://dx.doi.org/10.1146/annurev.physiol.64.082201.154705] [PMID: 11826276]
[55]
Blau, N.; Duran, M.; Gibson, K.M.; Dionisi-Vici, C. Physician’s Guide to the Diagnosis, Treatment and Follow-Up of Inherited Metabolic Diseases; Springer, 2014, pp. 247-264.
[http://dx.doi.org/10.1007/978-3-642-40337-8]
[56]
Roe, C.R.; Sweetman, L.; Roe, D.S.; David, F.; Brunengraber, H. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J. Clin. Invest., 2002, 110(2), 259-269.
[http://dx.doi.org/10.1172/JCI0215311] [PMID: 12122118]
[57]
Roe, C.R.; Mochel, F. Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. J. Inherit. Metab. Dis., 2006, 29(2-3), 332-340.
[http://dx.doi.org/10.1007/s10545-006-0290-3] [PMID: 16763896]
[58]
Chinnery, P.F.; Turnbull, D.M. Clinical features, investigation, and management of patients with defects of mitochondrial DNA. J. Neurol. Neurosurg. Psychiatry, 1997, 63(5), 559-563.
[http://dx.doi.org/10.1136/jnnp.63.5.559] [PMID: 9408091]
[59]
Arpa, J.; Cruz-Martínez, A.; Campos, Y.; Gutiérrez-Molina, M.; García-Rio, F.; Pérez-Conde, C.; Martín, M.A.; Rubio, J.C.; Del Hoyo, P.; Arpa-Fernández, A.; Arenas, J. Prevalence and progression of mitochondrial diseases: a study of 50 patients. Muscle Nerve, 2003, 28(6), 690-695.
[http://dx.doi.org/10.1002/mus.10507] [PMID: 14639582]
[60]
Majamaa, K.; Moilanen, J.S.; Uimonen, S.; Remes, A.M.; Salmela, P.I.; Kärppä, M.; Majamaa-Voltti, K.A.; Rusanen, H.; Sorri, M.; Peuhkurinen, K.J.; Hassinen, I.E. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am. J. Hum. Genet., 1998, 63(2), 447-454.
[http://dx.doi.org/10.1086/301959] [PMID: 9683591]
[61]
Solano, A.; Playan, A.; Lopez-Perez, M.J.; Montoya, J. Enfermedadesgenéticasdel ADN mitochondrial humano. Salud Pública Méx., 2001, 43(2), 151-161 Available at:.https://saludpublica.mx/index.php/spm/article/view/6303
[62]
Santorelli, F.M.; Tessa, A. Neuropaty, ataxia and retinits pigmentosa (NARP) syndrome. Orphanet Encyclopedia, 2004. Available at:. http://www.orpha.net/data/patho/GB/uk-NARP.pdf
[63]
McFarland, R.; Taylor, R.W.; Turnbull, D.M. The neurology of mitochondrial DNA disease. Lancet Neurol., 2002, 1(6), 343-351.
[http://dx.doi.org/10.1016/S1474-4422(02)00159-X] [PMID: 12849395]
[64]
Bhatnagar, K.R.; Gupta, D. Kearns-Sayre syndrome. Med. J. DY Patil Univ., 2014, 7(2), 252-255.
[http://dx.doi.org/10.4103/0975-2870.126383]
[65]
Broomfield, A.; Sweeney, M.G.; Woodward, C.E.; Fratter, C.; Morris, A.M.; Leonard, J.V.; Abulhoul, L.; Grunewald, S.; Clayton, P.T.; Hanna, M.G.; Poulton, J.; Rahman, S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J. Inherit. Metab. Dis., 2015, 38(3), 445-457.
[http://dx.doi.org/10.1007/s10545-014-9778-4] [PMID: 25352051]
[66]
Muraki, K.; Nishimura, S.; Goto, Y.; Nonaka, I.; Sakura, N.; Ueda, K. The association between haematological manifestation and mtDNA deletions in Pearson syndrome. J. Inherit. Metab. Dis., 1997, 20(5), 697-703.
[http://dx.doi.org/10.1023/A:1005378527077] [PMID: 9323565]
[67]
Horak, H.A.; Pourmand, R. Endocrine myopathies. Neurol. Clin., 2000, 18(1), 203-213.
[http://dx.doi.org/10.1016/S0733-8619(05)70186-9] [PMID: 10658176]
[68]
Pereira, R.M.; Freire de Carvalho, J. Glucocorticoid-induced myopathy. Joint Bone Spine, 2011, 78(1), 41-44.
[http://dx.doi.org/10.1016/j.jbspin.2010.02.025] [PMID: 20471889]
[69]
Islinger, M.; Grille, S.; Fahimi, H.D.; Schrader, M. The peroxisome: an update on mysteries. Histochem. Cell Biol., 2012, 137(5), 547-574.
[http://dx.doi.org/10.1007/s00418-012-0941-4]
[70]
Agrawal, G.; Subramani, S. Emerging role of the endoplasmic reticulum in peroxisome biogenesis. Front. Physiol., 2013, 4, 286.
[http://dx.doi.org/10.3389/fphys.2013.00286] [PMID: 24115935]
[71]
Wanders, R.J.; Waterham, H.R. Biochemistry of mammalian peroxisomes revisited. Annu. Rev. Biochem., 2006, 75, 295-332.
[http://dx.doi.org/10.1146/annurev.biochem.74.082803.133329]
[72]
Braverman, N.E.; D’Agostino, M.D.; Maclean, G.E. Peroxisome biogenesis disorders: biological, clinical and pathophysiological perspectives. Develop Disabil. Res. Rev., 2013, 17(3), 187-196.
[73]
Steinberg, S.J.; Dodt, G.; Raymond, G.V.; Braverman, N.E.; Moser, A.B.; Moser, H.W. Peroxisome biogenesis disorders. Biochimica et Biophysica Acta, 2006, 1763, 1733-1748.
[http://dx.doi.org/10.1016/j.bbamcr.2006.09.010]
[74]
Ebberink, M.S.; Koster, J.; Visser, G.; Spronsen, F.; Stolte-Dijkstra, I.; Smit, G.P.; Fock, J.M.; Kemp, S.; Wanders, R.J.; Waterham, H.R. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene. J. Med. Genetics, 2012, 49(5), 307-313.
[75]
Braverman, N.E.; Moser, A.B.; Steinberg, S.J. Rhizomelic chondrodysplasia punctata type 1. Pagon, R.A.; Adam, M.P.; Ardinger, H.H. et al, (Eds.): Gene Reviews®, 2001, , 1993-2015..
[76]
Steinberg, S.J.; Raymond, G.V.; Braverman, N.E.; Moser, A.B. Peroxisome biogenesis disorders, Zellweger syndrome spectrum.Pagon, R.A.; Adam, M.P.; Ardinger, H.H. et al, (Eds), Gene Reviews®, 2012, 1993-2015..
[77]
Lee, P.R.; Raymond, G.V. Child neurology: Zellweger syndrome. Neurology, 2013, 80(20), 207-210.
[78]
Meikle, P.J.; Hopwood, J.J.; Clague, A.E.; Carey, W.F. Prevalence of lysosomal storage disorders. JAMA, 1999, 281(3), 249-254.
[http://dx.doi.org/10.1001/jama.281.3.249] [PMID: 9918480]
[79]
Thomas, G. Disorders of glycoprotein degradation: alpha-mannosidosis, beta-Mannosidosis, Fucosidosis and Sialidosis.Metabolic and Molecular Bases of Inherited Disease; Schriver, C.R.; Beaudet, A.L.; Sly, W.S; Valle, D., Ed.; , 2001, pp. 3507-3534.
[80]
D’Azzo, A.; Andria, G.; Strisiugli, P. GalactosialidosisMetabolic and Molecular Bases of Inherited Disease Schriver, C.R.; Beaudet, A.L.; Sly, W.S; Valle, D., Ed.; 2001, pp. 3811-3826..
[81]
Shapiro, B.E.; Pastores, G.M.; Gianutsos, J.; Luzy, C.; Kolodny, E.H. 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), 425-433.
[http://dx.doi.org/10.1097/GIM.0b013e3181a1b5c5] [PMID: 19346952]
[82]
Evan, J.R. Woodley, Karlaina, O.; Patrick, T; Subha K. M.; Steven, G.; Jagdeep, W. Enhancement of gene therapy treatment for Sandhoff disease through complimentary drug therapy. Mol. Ther., 2016, 24(1), S-221.
[83]
Parenti, G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol. Med., 2009, 1(5), 268-279.
[http://dx.doi.org/10.1002/emmm.200900036] [PMID: 20049730]
[84]
Berardi, A.S.; Pannuzzo, G.; Graziano, A.; Costantino-Ceccarini, E.; Piomboni, P.; Luddi, A. Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients. Mol. Genet. Metab., 2014, 112(4), 294-301.
[http://dx.doi.org/10.1016/j.ymgme.2014.05.009] [PMID: 24913062]
[85]
Ghosh, P.; Dahms, N.M.; Kornfeld, S. Mannose 6-phosphate receptors: new twists in the tale. Nat. Rev. Mol. Cell Biol., 2003, 4(3), 202-212.
[http://dx.doi.org/10.1038/nrm1050] [PMID: 12612639]
[86]
Rauschka, H.; Colsch, B.; Baumann, N.; Wevers, R.; Schmidbauer, M.; Krammer, M.; Turpin, J.C.; Lefevre, M.; Olivier, C.; Tardieu, S.; Krivit, W.; Moser, H.; Moser, A.; Gieselmann, V.; Zalc, B.; Cox, T.; Reuner, U.; Tylki-Szymanska, A.; Aboul-Enein, F.; LeGuern, E.; Bernheimer, H.; Berger, J. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology, 2006, 67(5), 859-863.
[http://dx.doi.org/10.1212/01.wnl.0000234129.97727.4d] [PMID: 16966551]
[87]
Jameson, E.; Jones, S.; Wraith, J.E. Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I. Cochrane Database Syst. Rev., 2011.
[http://dx.doi.org/10.1002/14651858.CD009354]
[88]
Muenzer, J.; Wraith, J.E.; Beck, M.; Giugliani, R.; Harmatz, P.; Eng, C.M.; Vellodi, A.; Martin, R.; Ramaswami, U.; Gucsavas-Calikoglu, M.; Vijayaraghavan, S.; Wendt, S.; Puga, A.C.; Ulbrich, B.; Shinawi, M.; Cleary, M.; Piper, D.; Conway, A.M.; Kimura, A. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet. Med., 2006, 8(8), 465-473.
[http://dx.doi.org/10.1097/01.gim.0000232477.37660.fb] [PMID: 16912578]
[89]
Scarpa, M.; Almássy, Z.; Beck, M.; Bodamer, O.; Bruce, I.A.; De Meirleir, L.; Guffon, N.; Guillén-Navarro, E.; Hensman, P.; Jones, S.; Kamin, W.; Kampmann, C.; Lampe, C.; Lavery, C.A.; Teles, E.L.; Link, B.; Lund, A.M.; Malm, G.; Pitz, S.; Rothera, M.; Stewart, C.; Tylki-Szymańska, A.; van der Ploeg, A.; Walker, R.; Zeman, J.; Wraith, J.E. Hunter Syndrome Europena Expert Council. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J. Rare Dis., 2011, 6, 72.
[http://dx.doi.org/10.1186/1750-1172-6-72] [PMID: 22059643]
[90]
Fedele, A.O. Sanfilippo syndrome: causes, consequences, and treatments. Appl. Clin. Genet., 2015, 8, 269-281.
[http://dx.doi.org/10.2147/TACG.S57672] [PMID: 26648750]
[91]
Hendriksz, C.J.; Berger, K.I.; Giugliani, R.; Harmatz, P.; Kampmann, C.; Mackenzie, W.G.; Raiman, J.; Villarreal, M.S.; Savarirayan, R. International guidelines for the management and treatment of Morquio A syndrome. Am. J. Med. Genet. A., 2015, 167A(1), 11-25.
[http://dx.doi.org/10.1002/ajmg.a.36833] [PMID: 25346323]
[92]
Crawley, A.C.; Brooks, D.A.; Muller, V.J.; Petersen, B.A.; Isaac, E.L.; Bielicki, J.; King, B.M.; Boulter, C.D.; Moore, A.J.; Fazzalari, N.L.; Anson, D.S.; Byers, S.; Hopwood, J.J. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J. Clin. Invest., 1996, 97(8), 1864-1873.
[http://dx.doi.org/10.1172/JCI118617] [PMID: 8621770]
[93]
Norato, D.J. Mucopolysaccharidosis type VII (Sly Disease): clinical, genetic diagnosis and therapies.In: Lysosomal Storage Disorders; Springer: Boston, MA, 2007, pp. 457-472.
[http://dx.doi.org/10.1007/978-0-387-70909-3_29]
[94]
Hirshhorn, R.; Reuser, A. Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency.In: Metabolic and Molecular Bases of Inherited Disease; Schriver, C.R.; Beaudet, A.L.; Sly, W.S.; Valle, D., Eds.; , 2001, pp. 3389-3420.
[95]
Bernstein, D.L.; Bialer, M.G.; Mehta, L.; Desnick, R.J. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol. Genet. Metab., 2010, 101(2-3), 130-133.
[http://dx.doi.org/10.1016/j.ymgme.2010.06.003] [PMID: 20638881]
[96]
Byrne, B.J.; Falk, D.J.; Pacak, C.A.; Nayak, S.; Herzog, R.W.; Elder, M.E.; Collins, S.W.; Conlon, T.J.; Clement, N.; Cleaver, B.D.; Cloutier, D.A.; Porvasnik, S.L.; Islam, S.; Elmallah, M.K.; Martin, A.; Smith, B.K.; Fuller, D.D.; Lawson, L.A.; Mah, C.S. Pompe disease gene therapy. Hum. Mol. Genet., 2011, 20(R1), R61-R68.
[http://dx.doi.org/10.1093/hmg/ddr174] [PMID: 21518733]
[97]
Patterson, M.C.; Vecchio, D.; Prady, H.; Abel, L.; Wraith, J.E. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol., 2007, 6(9), 765-772.
[http://dx.doi.org/10.1016/S1474-4422(07)70194-1] [PMID: 17689147]
[98]
Aula, P.; Gahl, W.A. Disorders of free sialic acid storage.In: Metabolic and Molecular Bases of Inherited Disease; Schriver, C.R.; Beaudet, A.L.; Sly, W.S.; Valle, D., Eds.; , 2001, pp. 5109-51201.
[99]
Gahl, W.A.; Thoene, J.G.; Schneider, J.A. Cystinosis: a disorder of lysosomal memmbrane transport.In: Metabolic and Molecular Bases of Inherited Disease; Schriver, C.R.; Beaudet, A.L.; Sly, W.S.; Valle, D., Eds.; , 2001, pp. 5085-5108.
[100]
Scriver, C.R.; Beaudet, A.L.; Sly, W.S.; Valle, D. Purines and pyrimidines.In: The Metabolic and Molecular Bases of Inherited Disease, 8th ed; McGraw-Hill: New York, 2001, pp. 2512-2702.
[101]
Fernandez-Salguero, P.M.; Sapone, A.; Wei, X. Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistan origin. Pharmacogenetics, 1997, 7, 161-163.
[102]
Henderson, M.J.; Jones, S.; Walker, P.; Duley, J.; Simmonds, H.A. Heterogeneity of symptom-matology in two male siblings with thymine uraciluria. J. Inherit. Metab. Dis., 1995, 18(1), 85-86.
[http://dx.doi.org/10.1007/BF00711383] [PMID: 7623452]
[103]
Loffler, M.; Fairbanks, L.D.; Zameitat, E.; Marinaki, A.M.; Simmonds, H.A. Pyrimidine pathways in health and disease. Trends Mol. Med., 2005, 11(9), 430-437.
[http://dx.doi.org/10.1016/j.molmed.2005.07.003] [PMID: 16098809]
[104]
Van-Gennip, A.H.; Van-Kuilenburg, A.B.P. Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects.In: Purine and Pyrimidine Metabolism in Man X; Springer: Boston, 2000, Vol. 486, pp. 233-241.
[105]
Van-Gennip, A.H.; Abeling, N.G.; Vreken, P.; Van-Kuilenburg, A.B. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J. Inherit. Metab. Dis., 1997, 20(2), 203-213.
[http://dx.doi.org/dx.doi.org.10.1023/a:1005356806329] [PMID: 9211193]
[106]
Van-Kuilenburg, A.B.; Vreken, P.; Abeling, N.G. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum. Genet., 1999, 104, 1-9.
[http://dx.doi.org/10.1007/PL00008711]
[107]
Van-Kuilenburg, A.B.; Meinsma, R.; Beke, E. Beta-ureidopropionase deficiency: an inborn error of pyrimidine degradation with neurological abnormalities. Hum. Mol. Genet., 2004, 13(22), 2793-2801.
[http://dx.doi.org/10.1093/hmg/ddh303] [PMID: 15385443]
[108]
Yaplito-Lee, J.; Pitt, J.; Mejier, J.; Zoetekouw, L.; Meinsma, R.; Van-Kuilenburg, A.B. β-Uredidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Mol. Genet. Metab., 2008, 93(2), 190-194.
[http://dx.doi.org/10.1016/j.ymgme.2007.09.009] [PMID: 17964839]
[109]
Chan, B.; Wara, D.; Bastian, J.; Hershfield, M.S.; Bohnsack, J.; Azen, C.G.; Parkman, R.; Weinberg, K.; Kohn, D.B. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin. Immunol., 2005, 117(2), 133-143.
[http://dx.doi.org/10.1016/j.clim.2005.07.006] [PMID: 16112907]
[110]
Hassan, A.; Booth, C.; Brightwell, A.; Allwood, Z.; Veys, P.; Rao, K.; Hönig, M.; Friedrich, W.; Gennery, A.; Slatter, M.; Bredius, R.; Finocchi, A.; Cancrini, C.; Aiuti, A.; Porta, F.; Lanfranchi, A.; Ridella, M.; Steward, C.; Filipovich, A.; Marsh, R.; Bordon, V.; Al-Muhsen, S.; Al-Mousa, H.; Alsum, Z.; Al-Dhekri, H.; Al Ghonaium, A.; Speckmann, C.; Fischer, A.; Mahlaoui, N.; Nichols, K.E.; Grunebaum, E.; Al Zahrani, D.; Roifman, C.M.; Boelens, J.; Davies, E.G.; Cavazzana-Calvo, M.; Notarangelo, L.; Gaspar, H.B. Inborn errors working party of the European group for blood and marrow transplantation and European society for immunodeficiency. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood, 2012, 120(17), 3615-3624.
[http://dx.doi.org/10.1182/blood-2011-12-396879] [PMID: 22791287]
[111]
Lefevre, F.; Aronson, N. Ketogenic diet for the treatment of refractory epilepsy in children: a systematic review of efficacy. Pediatrics, 2000, 105(4)E46
[http://dx.doi.org/10.1542/peds.105.4.e46] [PMID: 10742367]
[112]
Nath, N.; Giri, S.; Prasad, R.; Salem, M.L.; Singh, A.K.; Singh, I. 5-aminoimidazole-4-carboxamide ribonucleoside: a novel immunomodulator with therapeutic efficacy in experimental autoimmune encephalomyelitis. J. Immunol., 2005, 175(1), 566-574.
[http://dx.doi.org/10.4049/jimmunol.175.1.566] [PMID: 15972693]
[113]
Chiuchiolo, M.J.; Kaminsky, S.M.; Sondhi, D.; Hackett, N.R.; Rosenberg, J.B.; Frenk, E.Z.; Hwang, Y.; Van de Graaf, B.G.; Hutt, J.A.; Wang, G.; Benson, J.; Crystal, R.G. Intrapleural administration of an AAVrh.10 vector coding for human α1-antitrypsin for the treatment of α1-antitrypsin deficiency. Hum. Gene Ther. Clin. Dev., 2013, 24(4), 161-173.
[http://dx.doi.org/10.1089/humc.2013.168] [PMID: 24191907]
[114]
Bollée, G.; Dollinger, C.; Boutaud, L.; Guillemot, D.; Bensman, A.; Harambat, J.; Deteix, P.; Daudon, M.; Knebelmann, B.; Ceballos-Picot, I. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J. Am. Soc. Nephrol., 2010, 21(4), 679-688.
[http://dx.doi.org/10.1681/ASN.2009080808] [PMID: 20150536]
[115]
El-Hattab, A.W.; Scaglia, F.; Wong, L.J. Deoxyguanosine Kinase Deficiency.Adam, M.P.; Ardinger, H.H.; Pagon, R.A.; Wallace, S.E.; Bean, L.J.H.; Stephens, K.; Amemiya, A. editors. GeneReviews ®; Seattle (WA): University of Washington, Seattle; , 2009.
[116]
Lee, Y-K. Lee, DH and Noh, Jung-Woo. Familial juvenile hyperuricemic nephropathy and uromodulin gene mutation. J. Genet. Med., 2013, 10, 7.
[http://dx.doi.org/10.5734/JGM.2013.10.1.7]
[117]
Crawhall, J.C.; Henderson, J.F.; Kelley, W.N. Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr. Res., 1972, 6(5), 504-513.
[http://dx.doi.org/10.1203/00006450-197205000-00004] [PMID: 4558815]
[118]
Carney, D.A.; Westerman, D.A.; Tam, C.S.; Milner, A.; Prince, H.M.; Kenealy, M.; Wolf, M.; Januszewicz, E.H.; Ritchie, D.; Came, N.; Seymour, J.F. Therapy-related myelodysplastic syndrome and acute myeloid leukemia following fludarabine combination chemotherapy. Leukemia, 2010, 24(12), 2056-2062.
[http://dx.doi.org/10.1038/leu.2010.218] [PMID: 20962860]
[119]
Lubin, M.; Lubin, A. Selective killing of tumors deficient in methylthioadenosine phosphorylase: a novel strategy. PLoS One, 2009, 4(5)e5735
[http://dx.doi.org/10.1371/journal.pone.0005735] [PMID: 19478948]
[120]
Veldman, A.; Santamaria-Araujo, J.A.; Sollazzo, S.; Pitt, J.; Gianello, R.; Yaplito-Lee, J.; Wong, F.; Ramsden, C.A.; Reiss, J.; Cook, I.; Fairweather, J.; Schwarz, G. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics, 2010, 125(5), e1249-e1254.
[http://dx.doi.org/10.1542/peds.2009-2192] [PMID: 20385644]
[121]
Gurbanov, R.; Tunçer, S. PNP (Purine Nucleoside Phosphorylase). Atlas Genet. Cytogenet. Oncol. Haematol., 2018, 22(11), 431-438.
[122]
De-Brouwer, A.P.M.; Duley, J.A.; Christodoulou, J. Phosphoribosylpyrophosphate Synthetase Superactivity.GeneReviews®; Adam, M.P.; Ardinger, H.H.; Pagon, R.A., Eds.; University of Washington, Seattle: Seattle, WA, 2008, pp. 1993-2020..
[123]
Simmonds, H.A. Hereditary xanthinuria.Orphanet Encyclopedia,, 2003.http://www.orpha.net/data/patho/GB/uk-XDH.pdf
[124]
Browning, J.L. B cells move to centre stage: novel opportunities for autoimmune disease treatment. Nat. Rev. Drug Discov., 2006, 5(7), 564-576.
[http://dx.doi.org/10.1038/nrd2085] [PMID: 16816838]
[125]
Chan, F.; Harding, P.G.R.; Wong, T.; Fellows, G.F.; Possmayer, F. Cellular distribution of enzymes involved in phosphatidylcholine synthesis in developing rat lung. Can. J. Biochem. Cell Biol., 1983, 61(2-3), 107-114.
[http://dx.doi.org/10.1139/o83-016] [PMID: 6303532]
[126]
Johnson, M.R.; Diasio, R.B. Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. Adv. Enzyme Regul., 2001, 41, 151-157.
[http://dx.doi.org/10.1016/S0065-2571(00)00011-X] [PMID: 11384742]
[127]
Lopez-Gomez, C.; Levy, R.J.; Sanchez-Quintero, M.J.; Juanola-Falgarona, M.; Barca, E.; Garcia-Diaz, B.; Tadesse, S.; Garone, C.; Hirano, M. Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency. Ann. Neurol., 2017, 81(5), 641-652.
[http://dx.doi.org/10.1002/ana.24922] [PMID: 28318037]
[128]
Hirano, M.; Martí, R.; Spinazzola, A.; Nishino, I.; Nishigaki, Y. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. Nucleosides Nucleotides Nucleic Acids, 2004, 23(8-9), 1217-1225.
[http://dx.doi.org/10.1081/NCN-200027485] [PMID: 15571233]
[129]
Simmonds, H.A.; van Gennip, A.H. Purine and pyrimidine disordersIn: Physician’s guide to the laboratory diagnosis of metabolic diseases, 2nd edn; Blau, N.; Duran, M.; Blaskovic, M.E.; Gibson, K.M., Eds.; Springer: Berlin, 1996, pp. 445-466..
[130]
Millington, D.; Koberl, D. Metabolic screening in the newborn growth. Genetics and Hormones, 2003, 19(3), 33-38.
[131]
Ward, J.C. Inborn errors of metabolism of acute onset in infancy. Pediatr. Rev., 1990, 11(7), 205-216.
[http://dx.doi.org/10.1542/pir.11-7-205] [PMID: 2405361]
[132]
Guo, K.; Zhou, X.; Chen, X.; Wu, Y.; Liu, C.; Kong, Q. Expanded newborn screening for inborn errors of metabolism and genetic characteristics in a Chinese population. Front. Genet., 2018, 9, 122.
[http://dx.doi.org/10.3389/fgene.2018.00122] [PMID: 29731766]
[133]
Blaser, S.; Feigenbaum, A. A neuroimaging approach to inborn errors of metabolism. Neuroimaging Clin. N. Am., 2004, 14(2), 307-329.
[http://dx.doi.org/10.1016/j.nic.2004.03.013] [PMID: 15182821]
[134]
Zhou, X.; Cui, Y.; Han, J. Methylmalonic acidemia: current status and research priorities. Intractable Rare Dis. Res., 2018, 7, 73-78.
[http://dx.doi.org/10.5582/irdr.2018.01026]
[135]
Nordli, D.R.; De-Vivo, D.C. Classification of infantile seizures: Implications for identification and treatment of in born errors of metabolism. J. Child Neurol., 2002, 17(Suppl. 3), 3S3-3S8..
[PMID: 12597050]

Rights & Permissions Print Cite
Article Metrics
55
2
© 2024 Bentham Science Publishers | Privacy Policy