Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test

Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test

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 for...

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Bibliographic Details
Main Authors:	Sun Hee Lee, Yong Hee Hong
Format:	Article
Language:	English
Published:	Korean Pediatric Society 2014-07-01
Series:	Korean Journal of Pediatrics
Subjects:	Neonatal screening 3-Methylcrotonyl CoA carboxylase Asymptomatic disease Mother Unaffected newborn
Online Access:	http://kjp.or.kr/upload/pdf/kjped-57-329.pdf

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