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 1: A Review of Clinical Features, Diagnosis, and Management

제 1형 글루타르산뇨증

  • Jiyoung Oh (Division of Clinical Genetics, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine)
  • 오지영 (연세대학교 의과대학 소아학교실)
  • Published : 2024.12.31
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Abstract

Glutaric aciduria type 1 (GA1) is a rare autosomal recessive metabolic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH), leading to the accumulation of toxic metabolites. Early-onset GA1 is often characterized by acute encephalopathic crises leading to striatal injury and progressive movement disorders, whereas late-onset GA1 presents with varied neurological and renal complications. Diagnostic strategies include metabolite analysis, enzymatic studies, and genetic testing, with newborn screening playing a critical role in early detection. Treatment strategies emphasize dietary lysine restriction, carnitine supplementation, and emergency protocols during catabolic events. While significant advancements have improved outcomes, challenges remain in managing extrastriatal abnormalities and late-onset complications. This review aims to provide an in-depth discussion on the clinical features, diagnostic approaches, and management strategies for GA1.

Keywords

References

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