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.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Valores de Referencia
/
Valeratos
/
Carnitina
/
Tamizaje Masivo
/
Exones
/
Análisis de Secuencia
/
Espectrometría de Masas en Tándem
/
Glicina
/
Leucina
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
/
Recién Nacido
Idioma:
Coreano
Revista:
Laboratory Medicine Online
Año:
2011
Tipo del documento:
Artículo
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