Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia
Journal of Genetic Medicine
; : 80-85, 2017.
Article
en En
| WPRIM
| ID: wpr-179815
Biblioteca responsable:
WPRO
ABSTRACT
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal complication of MMA, herein, we report a Korean neonate diagnosed with MMA on the basis of biochemical and genetic findings, who developed cardiomyopathy, resulting in sudden death. The patient presented vomiting and lethargy at 3 days of age. Initially, the patient had an increased plasma propionylcarnitine/acetylcarnitine concentration ratio of 0.49 in a tandem mass spectrometry analysis and an elevated ammonia level of 537 µmol/L. Urine organic acid analysis showed increased excretion of methylmalonate. Subsequent sequence analysis of the methylmalonyl-CoA mutase (MUT) gene revealed compound heterozygous mutations c.323G>A (p.Arg108His) in exon 1 and c.1033_1034del (p. Leu345Serfs*15) in exon 4, the latter being a novel mutation. In summary, this is the first case of MMA and cardiomyopathy in Korea that was confirmed by genetic analysis to involve a novel MUT mutation.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Plasma
/
Vómitos
/
Líquidos Corporales
/
Exones
/
Mutación del Sistema de Lectura
/
Análisis de Secuencia
/
Hiperhomocisteinemia
/
Muerte Súbita
/
Letargia
/
Espectrometría de Masas en Tándem
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Newborn
País/Región como asunto:
Asia
Idioma:
En
Revista:
Journal of Genetic Medicine
Año:
2017
Tipo del documento:
Article