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

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

글루타르산뇨증 1형: 신생아 대사이상 검사 시행 이후 변화를 중심으로

Glutaric Aciduria Type I: The Newborn Screening Program Changes the Outcomes of the Disease

  • 김수진 (인하대학교 의과대학 소아청소년과학교실, 인하대병원 희귀질환 경기서북부권 거점센터)
  • 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)
  • 발행 : 2022.06.30
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⟨ 이전 논문 다음 논문 ⟩

초록

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.

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참고문헌

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