Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Añadir filtros








Intervalo de año
1.
Laboratory Medicine Online ; : 115-119, 2011.
Artículo en Coreano | WPRIM | ID: wpr-111800

RESUMEN

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.


Asunto(s)
Humanos , Recién Nacido , Carnitina , Exones , Glicina , Leucina , Tamizaje Masivo , Valores de Referencia , Análisis de Secuencia , Espectrometría de Masas en Tándem , Valeratos
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA