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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2014-07-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-57-329.pdf |