A Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 204-207, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-79072
ABSTRACT
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) is a neurometabolic disorder with highly variable clinical severity ranging from mild learning disability to severe encephalopathy. Diagnosis of HHH syndrome can easily be delayed or misdiagnosed due to insidious symptoms and incomplete biochemical findings, in that case, genetic testing should be considered to confirm the diagnosis. HHH syndrome is caused by biallelic mutations of SLC25A15, which is involved in the urea cycle and the ornithine transport into mitochondria. Here we report a boy with spastic paraplegia and asymptomatic younger sister who have compound heterozygous mutations of c.535C>T (p.R179*) and c.116C>A (p.T39K) in the SLC25A15 gene. We identified that p.T39K mutation is a novel pathogenic mutation causing HHH syndrome and that p.R179*, which is prevalent in Japanese and Middle Eastern heritage, is also found in the Korean population.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ornitina
/
Paraplejía
/
Urea
/
Encefalopatías
/
Pruebas Genéticas
/
Hermanos
/
Pueblo Asiatico
/
Diagnóstico
/
Trastornos Innatos del Ciclo de la Urea
/
Genética
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Journal of the Korean Child Neurology Society
Año:
2017
Tipo del documento:
Artículo
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