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

• Váldodahkkit: Sun Hee Lee (Dahkki), Yong Hee Hong (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Korean Pediatric Society, 2014-07-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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...