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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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The Diagnosis and Assessment of 3-methylglutaconic Acidurias

3-Methylglutaconic aciduria의 진단 및 평가

  • Kim, Ja Hye (Department of Pediatrics, Hanyang University Guri Hospital)
  • 김자혜 (한양대학교 구리병원 소아청소년과)
  • Published : 2016.04.25
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Abstract

The 3-methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of several inborn errors of metabolism characterized by increased urinary excretion of 3-methylglutaconic acid. In most cases, 3-MGA is only slightly increased and combined with other metabolites. However, repeated and significant excretion of 3-MGA (40->1,000 mmol/mol creatinine) is a hallmark of the disorders of 3-MGA-urias. There have identified five distinct types of disorders: inborn errors of leucine metabolism and four disorders of mitochondrial dysfunction through different mechanism. The range of clinical and biochemical findings in this condition is variable. In the patients with 3-methylglutaconyl-CoA hydratase deficiency, increased 3-hydroxyisovaleric acid is useful in the differential diagnosis. Other forms of 3-MGA-urias are welldefined clinically such as Barth syndrome, Costeff syndrome, TMEM 70 defect, MEGDEL syndrome, and DCMA syndrome. We provide an overview of the expanding clinical spectrum and differential diagnosis of the 3-MGA-urias.

3-Methylglutaconic aciduria (3-MGA-uria)는 임상적 및 유전적으로 다양한 대사질환들을 총칭하는 질환군이다. 대부분의 경우 소변에서 3-MGA가 약간 증가되어 있거나 다른 대사물질이 같이 분비되는 경우에는 다른 대사질환이나 미토콘드리아 질환 등을 감별해야 한다. 그러나 지속적이며 반복적으로 소변 유기산 분석에서 3-MGA가 40-1,000 mmol/mol creatinine으로 상승되어 있는 경우에는 3-MGA-uria를 일으키는 질환을 감별해야 한다. 3-MGA-uria는 5가지 타입의 질환으로 분류되어 있고 Leucine 대사 질환인 일차성 3-MGA-uria와 4가지의 미토콘드리아 이상질환이 포함되어 있으며 임상적 및 생화학적 소견은 다양하게 나타날 수 있다. 일차성 3-MGA-uria인 3-methyl-glutaconyl-CoA hydratase 결핍증 환자에서는 소변의 3-MGA가 다른 질환군에 비해 많이 증가되어 있고 소변에서 3-hydroxyisovaleric acid가 분비되는 것이 감별점이라 할 수 있다. 다른 종류의 3-MGA-uria의 경우에는 대개 임상적으로 잘 분류가 되어 있는 Barth 증후군, Costeff 증후군, TMEM 70 결핍, MEGDEL 증후군, and DCMA 증후군 등이 포함되어 있어 시신경 검사, 심장초음파 검사 및 발달 검사 등을 통하여 감별진단에 이를 수 있다. 이에 본 종설에서는 선별검사를 통해 3-MGA-uria가 양성이 나온 환자들의 적절한 진단 및 치료를 위한 지침을 제시하고자 한다.

Keywords

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