Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test

  • Lee, Sun Hee (Department of Pediatrics, Gachon University Gil Medical Center) ;
  • Hong, Yong Hee (Department of Pediatrics, Soonchunhyang University Bucheon Hospital)
  • 투고 : 2014.09.17
  • 심사 : 2014.03.05
  • 발행 : 2014.07.10
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초록

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.

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참고문헌

  1. Nyhan WL, Barshop BA, Ozand PT, editors. Organic acidemias. In: Nyhan WL, Barshop BA, Ozand PT, editors. Atlas of metabolic diseases. 2nd ed. London: Hodder education, 2005;66-9.
  2. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis 2006;29:76-85.
  3. Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, et al. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis 2003;26:25-35.
  4. Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 1998;132(3 Pt 1):519-23.
  5. Jung CW, Lee BH, Kim JH, Kim GH, Lee J, Choi JH, et al. Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. J Hum Genet 2012;57:62-4.
  6. Kwak JY, Park JY, Nam KA, Son SH, Seo SS. Isolated 3-methylcrotonyl CoA carboxylase deficiency detected by newborn screening program using tandem mass spectrometry. Korean J Pediatr 2005;48:561-64.
  7. Kim SJ. Maternal metabolic disease detected by newborn screening program using tandem mass. Korean J Inher Metab Dis 2003;3:97-9.
  8. Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 2001;107:495-504.
  9. Grunert SC, Stucki M, Morscher RJ, Suormala T, Burer C, Burda P, et al. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis 2012;7:31.
  10. Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, et al. Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. J Inherit Metab Dis 2005;28:229-33.
  11. Ficicioglu C, Payan I. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. Pediatrics 2006;118:2555-6.
  12. Oude Luttikhuis HG, Touati G, Rabier D, Williams M, Jakobs C, Saudubray JM. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. J Inherit Metab Dis 2005;28:1136-8.
  13. Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat 2006;27:748-59.
  14. Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, et al. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. J Hum Genet 2007;52:1040-3.
  15. Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008;93:363-70.

피인용 문헌

  1. Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program vol.39, pp.2, 2014, https://doi.org/10.1007/s10545-015-9899-4