Identification of a Novel Mutation in the MCCC2 Gene of a Korean Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency
Laboratory Medicine Online
;
: 115-119, 2011.
Article
in Korean
| WPRIM
| ID: wpr-111800
ABSTRACT
3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder characterized by a defect in leucine catabolism. We report the case of an 80-day-old patient with 3-methylcrotonyl-CoA carboxylase deficiency who had elevated levels of 3-hydroxyisovalerylcarnitine (45.56 micromol/L; reference range, C (p.Gly105Arg)] at nucleotide position 313 and a mutation caused by a heterozygous A to T transversion [c.1252A>T (p.lle418Phe)] at nucleotide position 1252. Identification of these 2 novel MCCC2 gene mutations in our patient suggested that analysis of the MCCC1 and MCCC2 genes might prove useful in the diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Reference Values
/
Valerates
/
Carnitine
/
Mass Screening
/
Exons
/
Sequence Analysis
/
Tandem Mass Spectrometry
/
Glycine
/
Leucine
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Laboratory Medicine Online
Year:
2011
Type:
Article
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