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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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