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

• প্রধান লেখক: Sun Hee Lee (লেখক), Yong Hee Hong (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Korean Pediatric Society, 2014-07-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...