탠덤매스 신생아 스크리닝 검사로 발견된 Isolated 3-Methylcrotonyl CoA Carboxylase 결핍증 1례

• Published in: Korean journal of pediatrics Vol. 48; no. 5; pp. 561 - 564
• Main Authors: 곽주영, 박준영, 남경아, 손상희, 서손상, Kwak, Ju Young, Park, Jun Young, Nam, Kyung A, Son, Sang Hi, Seo, Son Sang
• Format: Journal Article
• Language: Korean
• Published: 2005
• Subjects: Tandem mass spectrometry; 3-Methylcrotonyl CoA carboxylase
• ISSN: 1738-1061; 2092-7258

Isolated deficiency of 3-methylcrotonyl CoA carboxylase is a rare disorder of the catabolic pathway for leucine and many patients have mild symptoms or no symptom. However, the introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder. We report an asymptomatic premature infant with isolated 3-methylcrotonyl CoA carboxylase deficiency detected by newborn screening program using tandem mass spectrometry. She was born at preterm, 36 weeks of gestation and her birth weight was 1,912 gm. She was delivered by Cesarian section due to maternal preeclampsia and oligohydramnios. An elevation of 3-hydroxyisovalerylcarnitine in a blood sample obtained at Seven days was detected by tandem mass screening. Massively elevated excretion of 3-hydroxyisovalerate and 3-methylcrotonylglycine was detected in the urine collected at 15 days. L-carnitine(100 mg/kg/day) was administrated orally to correct sencondary carnitine deficiency. Carnitine is conjugated with metabolites, to decrease the potential toxic effects. She is asymptomatic to date, and her growth and development are within normal limits. 저자들은 탠덤매스를 이용한 신생아 대사질환 스크리닝 검사로 우연히 발견된 무증상의 isolated 3-methylcrotonyl CoA carboxylase 결핍증 1례를 경험하여 이를 보고하는 바이다.