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KMID : 1189120170140010023
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대한의학유전학회지
2017 Volume.14 No. 1 p.23 ~ p.26
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Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
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Kim Yoon-Myung
Seo Go-Hun
Kim Gu-Hwan
Yoo Han-Wook
Lee Beom-Hee
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Abstract
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Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.
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KEYWORD
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3-Methylcrotonyl-CoA carboxylase deficiency, 3-Methylcrotonylglycinuria, MCCC1
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