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A Case of Asymptomatic 3-methylcrotonylglycinuria Detected by Tandem Mass Spectrometry in Newborn Screening

Jin Kyung Kim

Clin Exp Pediatr. 2004;47(8):912-916. Published online August 15, 2004

3-Methylcrotonylglycinuria is an autosomal recessive inborn error of leucine catabolism that results from the deficiency of 3-methylcrotonyl-CoA carboxylase(3-MCC). In 3-MCC deficiency 3-methylcrotonyl-CoA, may form glycine and carnitine conjugates. The primary metabolites are 3-hydroxyisovaleric acid(3-HIVA), 3-hydroxyisovaleryl carnitine(3-HIVC) and 3-methylcrotonylglycine(3-MCG). 3-hydroxyisovaleric acid(3-HIVA) and 3-methylcrotonylglycine(3-MCG) are increased in urine, and 3-hydroxyisovaleryl carnitine(3-HIVC) is found in blood and urine. 3-MCC is one of the...

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