A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 92-98, 2004.
Artigo
em Coreano
| WPRIM
| ID: wpr-207297
ABSTRACT
3-Methylcrotonyl-CoA carboxylase(MCC) is a biotin-dependent enzyme involved in the leucine metabolism. We describe a patient with MCC deficiency who manifested with Reye syndrome-like illness with status epilepticus, metabolic acidosis, hypoglycemia, hyperammonemia, elevated liver enzymes and neurologic impairments after a viral gastroenteritis and then suffered from Lennox-Gastaut syndrome. Urinary organic acid analysis revealed increased excretions of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. This patient was managed with a leucine restriction diet and supplementation of biotin and carnitine, which was not so effective. He suffered from neurologic sequelae such as Lennox-Gastaut syndrome, motor and cognitive impairements.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estado Epiléptico
/
Acidose
/
Biotina
/
Carnitina
/
Hiperamonemia
/
Dieta
/
Gastroenterite
/
Hipoglicemia
/
Leucina
/
Fígado
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2004
Tipo de documento:
Artigo
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