• Clinical and Experimental Pediatrics
• /
• 제57권7호
• /
• pp.329-332
• /
• 2014

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.

• Clinical and Experimental Pediatrics
• /
• 제46권4호
• /
• pp.382-384
• /
• 2003

저자들은 항문 직장 기형, 손기형, 감각신경성 난청을 동반한 소이증, 일측성 신 무형성증을 증상으로 나타내고, 가족력이 없는 TBS 1례를 경험하였기에 보고하는 바이다.