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Case Report
Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
Sun Hee Lee, Yong Hee Hong
Clin Exp Pediatr. 2014;57(7):329-332.   Published online July 23, 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...

Isolated 3-Methylcrotonyl CoA Carboxylase Deficiency Detected by Newborn Screening Program Using Tandem Mass Spectrometry
Ju Young Kwak, Jun Young Park, Kyung A Nam, Sang Hi Son, Son Sang Seo
Clin Exp Pediatr. 2005;48(5):561-564.   Published online May 15, 2005
Isolated deficiency of 3-methylcrotonyl CoA carboxylase is a rare disorder of the catabolic pathway for leucine and many patients have mild symptoms or no symptom. However, the introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder. We report an asymptomatic premature infant with isolated 3-methylcrotonyl CoA carboxylase deficiency detected by newborn screening...
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