Sudden Infant Death Syndrome and Inborn Metabolic Disorders

유아돌연사증후군과 유전성대사질환

  • Yoon, Hye-Ran (Duksung Women's University, College of Pharmacy, Department of Biomedical & Analytical Chemistry)
  • 윤혜란 (덕성여자대학교 약학대학 생.의약분석실)
  • Published : 2013.12.31

Abstract

Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

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