Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Glutaric Aciduria Type I: The Newborn Screening Program Changes the Outcomes of the Disease

글루타르산뇨증 1형: 신생아 대사이상 검사 시행 이후 변화를 중심으로

  • Kim, Su Jin (Department of Pediatrics, Inha University Hospital, Inha University College of Medicine North West Gyeonggi Regional Center for Rare Disease, Inha University Hospital)
  • 김수진 (인하대학교 의과대학 소아청소년과학교실, 인하대병원 희귀질환 경기서북부권 거점센터)
  • Published : 2022.06.30
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Abstract

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.

Keywords

References

  1. Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet 2006;142C:86-94. https://doi.org/10.1002/ajmg.c.30088
  2. Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria; a "new" disorder of amino acid metabolism. Biochem Med 1975;12:12-21. https://doi.org/10.1016/0006-2944(75)90091-5
  3. Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, et al. Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Ann Neurol 2018;83:970-9. https://doi.org/10.1002/ana.25233
  4. Lund TM, Christensen E, Kristensen AS, Schousboe A, Lund AM. On the neurotoxicity of glutaric, 3-hydroxyglutaric, and trans-glutaconic acids in glutaric acidemia type 1. J Neurosci Res 2004;77:143-7. https://doi.org/10.1002/jnr.20136
  5. Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014;133:1-9. https://doi.org/10.1007/s00439-013-1358-4
  6. Gurbuz BB, Yilmaz DY, Coskun T, Tokatli A, Dursun A, Sivri HS. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients. Eur J Med Genet 2020;63:104032. https://doi.org/10.1016/j.ejmg.2020.104032
  7. Kurkina MV, Mihaylova SV, Baydakova GV, Saifullina EV, Korostelev SA, Pyankov DV, et al. Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene. Metab Brain Dis 2020;35:1009-16. https://doi.org/10.1007/s11011-020-00554-x
  8. Larson A, Goodman S. Glutaric Acidemia Type 1. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews ((R)). Seattle (WA) 1993.
  9. Kulkens S, Harting I, Sauer S, Zschocke J, Hoffmann GF, Gruber S, et al. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 2005;64:2142-4. https://doi.org/10.1212/01.WNL.0000167428.12417.B2
  10. Pierson TM, Nezhad M, Tremblay MA, Lewis R, Wong D, Salamon N, et al. Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules. Neurogenetics 2015;16:325-8. https://doi.org/10.1007/s10048-015-0456-y
  11. Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N. Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Mol Genet Metab 2012;106:430-8. https://doi.org/10.1016/j.ymgme.2012.05.024
  12. Martner EMC, Maier EM, Mengler K, Thimm E, Schiergens KA, Marquardt T, et al. Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study. J Inherit Metab Dis 2020.
  13. Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, et al. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab 2020;131:325-40. https://doi.org/10.1016/j.ymgme.2020.09.007
  14. Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Li H, et al. Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. Mol Genet Metab 2011;102:343-8. https://doi.org/10.1016/j.ymgme.2010.11.159
  15. Boy N, Garbade SF, Heringer J, Seitz A, Kolker S, Harting I. Patterns, evolution, and severity of striatal injury in insidiousvs acute-onset glutaric aciduria type 1. J Inherit Metab Dis 2019;42:117-27. https://doi.org/10.1002/jimd.12033
  16. Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2006;59:840-7. https://doi.org/10.1203/01.pdr.0000219387.79887.86
  17. Merinero B, Perez-Cerda C, Font LM, Garcia MJ, Aparicio M, Lorenzo G, et al. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 1995;26:238-42. https://doi.org/10.1055/s-2007-979763
  18. van der Watt G, Owen EP, Berman P, Meldau S, Watermeyer N, Olpin SE, et al. Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. Mol Genet Metab 2010;101:178-82. https://doi.org/10.1016/j.ymgme.2010.07.018
  19. Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. Brain Dev 2014;36:813-22. https://doi.org/10.1016/j.braindev.2013.11.006
  20. Sitta A, Guerreiro G, de Moura Coelho D, da Rocha VV, Dos Reis BG, Sousa C, et al. Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. Metab Brain Dis 2021;36:205-12. https://doi.org/10.1007/s11011-020-00632-0
  21. Zhang X, Luo Q. Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases. Exp Ther Med 2017;13:560-6. https://doi.org/10.3892/etm.2016.4007
  22. Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kolker S, et al. Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis 2017;12:77. https://doi.org/10.1186/s13023-017-0612-6
  23. Boy N, Muhlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017;40:75-101. https://doi.org/10.1007/s10545-016-9999-9
  24. Yoon HR. Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry. Ann Pediatr Endocrinol Metab 2015;20:119-24. https://doi.org/10.6065/apem.2015.20.3.119
  25. Yoon HR, Lee KR, Kim H, Kang S, Ha Y, Lee DH. 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 3:115-20.
  26. Tsai FC, Lee HJ, Wang AG, Hsieh SC, Lu YH, Lee MC, et al. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. J Chin Med Assoc 2017;80:253-61. https://doi.org/10.1016/j.jcma.2016.07.006
  27. Norman R, Haas M, Chaplin M, Joy P, Wilcken B. Economic evaluation of tandem mass spectrometry newborn screening in Australia. Pediatrics 2009;123:-451-7. https://doi.org/10.1542/peds.2008-0911
  28. Pfeil J, Listl S, Hoffmann GF, Kolker S, Lindner M, Burgard P. Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis. Orphanet J Rare Dis 2013;8:167. https://doi.org/10.1186/1750-1172-8-167
  29. Bessey A, Chilcott J, Pandor A, Paisley S. The Cost-Effectiveness of Expanding the Nhs Newborn Bloodspot Screening Programme To Include Homocystinuria (Hcu), Maple Syrup Urine Disease (Msud), Glutaric Aciduria Type 1 (Ga1), Isovaleric Acidaemia (Iva), and Long-Chain Hydroxyacyl-Coa Dehydrogenase Deficiency (Lchadd). Value Health 2014;17:A531.
  30. Mhanni A, Aylward N, Boy N, Martin B, Sharma A, Rockman-Greenberg C. Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020. Mol Genet Metab Rep 2020;25:100666. https://doi.org/10.1016/j.ymgmr.2020.100666
  31. Boy N, Mengler K, Heringer-Seifert J, Hoffmann GF, Garbade SF, Kolker S. Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis. Genet Med 2021;23:13-21. https://doi.org/10.1038/s41436-020-00971-4
  32. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003;290:2564-72. https://doi.org/10.1001/jama.290.19.2564
  33. Spenger J, Maier EM, Wechselberger K, Bauder F, Kocher M, Sperl W, et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int J Neonatal Screen 2021;7.
  34. Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999;22:867-81. https://doi.org/10.1023/A:1005683222187
  35. Shaik M, T PK, Kamate M, A BV. Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I? Indian J Pediatr 2019;86:995-1001. https://doi.org/10.1007/s12098-019-03017-z
  36. Foran J, Moore M, Crushell E, Knerr I, McSweeney N. Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma. JIMD Rep 2021;58:12-20. https://doi.org/10.1002/jmd2.12187
  37. Shaik M, Kamate M, Kruthika-Vinod TP, Vedamurthy AB. A Low-Excretor Biochemical Phenotype of Glutaric Aciduria Type I: Identification of Novel Mutations in the Glutaryl CoA Dehydrogenase Gene and Review of Literature from India. Ann Indian Acad Neurol 2020;23:724-6.