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KMID : 0918520150150010001
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 1 p.1 ~ p.8
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Clinical Findings and Gene Analysis of 3-Methylcrotonyl-CoA Carboxylase Deficiency
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Lee Seung-Eun
Ahn Hee-Jae
Lee Jeong-Ho
Lee Dong-Hwan
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Abstract
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Purpose: 3-methylcrotonyl CoA carboxylase deficiency (3MCCD) is leucine metabolic disorder caused by mutation in MCCC1 or MCCC2 gene. Clinical manifestations are variable, ranging from fatal neonatal onset to asymptomatic individuals. There is no retrospective study of Korean patients undergoing longterm treatment for 3MCCD. We reported this study to find out clinical symptoms and gene analysis of 3MCCD patients.
Methods: This study was based on data of patients diagnosed with 3MCCD in Soonchunhyang university hospital between April 2009 and September 2013. We report clinical, enzymatic and mutation data of 3MCCD patients found by newborn screening.
Results: In tandem mass spectrometry, 3-OH-isovalerylcarnitine (C5OH) of all patients increased. And all 7 patients were elevated 3-methylcrotonylglycine (3MCG) and 3-hydroxyisovaleric acid (3HIVA) in urine. MCCC mutation was identified in 2 patients and MCCC2 was mutated in 5 patients. We found mutation occurred in 8 different parts of nucleotide and such mutation caused 7 different types of changes in amino acid. All patients are on medication of L-carnitine and L-glycine. 4 patients are taking biotin. And 4 patients are eating leucine free formula. After starting treatment, there were no significant changes of urine 3MCG and 3HIVA levels.
Conclusions: According to our data, MCCC2 gene mutation was more common than MCCC1 gene mutation. But the level of 3HIVA or 3MCG in urine has no correlation with phenotype. All patients has no symptoms and are shown normal development.
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KEYWORD
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3-methylcrotonyl CoA carboxylase deficiency (3MCCD), Clinical manifestation, Gene analysis
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