The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation / 소아과
Korean Journal of Pediatrics
;
: 408-412, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-16103
ABSTRACT
Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fosforilação Oxidativa
/
Prognóstico
/
Choque
/
Encefalopatias
/
RNA de Transferência
/
Ácido Láctico
/
Apneia do Sono Tipo Central
/
Crescimento e Desenvolvimento
/
Hiperlactatemia
/
Epilepsia Resistente a Medicamentos
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
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