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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Maple Syrup Urine Disease (MSUD) Diagnosis & Treatment Guidelines: Past and Present in Korea

한국에서의 단풍당뇨병 진단 치료 지침: 과거와 현재

  • Sook Za Kim (KSZ Children's Hospital/Korea Genetics Research Center) ;
  • Wung Joo Song (KSZ Children's Hospital/Korea Genetics Research Center) ;
  • Sun Ho Lee (KSZ Children's Hospital/Korea Genetics Research Center) ;
  • Harvey L. Levy (Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School)
  • 김숙자 (김숙자 소아청소년병원/한국 유전학 연구소) ;
  • 송웅주 (김숙자 소아청소년병원/한국 유전학 연구소) ;
  • 이선호 (김숙자 소아청소년병원/한국 유전학 연구소) ;
  • Published : 2023.12.31
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Abstract

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.

Keywords

References

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