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아이소발레릭산혈증의 신생아선별검사 후 진단 및 치료 전략

Other Titles
 The strategy for diagnosis and treatment of isovaleric acidemia 
 고정민  ;  이경아 
 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.16(2) : 57-61, 2016 
Journal Title
 Journal of the Korean Society of Inherited Metabolic Disease  (대한유전성대사질환학회지) 
Issue Date
Newborn screening ; Citrullinemia ; Citrin deficiency ; Argininosuccinic aciduria
Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
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