Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency

Lennox-Gastaut 증후군으로 발현된 3-Methylcrotonyl-CoA Carboxylase 결핍증 1례

  • Kang, Hoon Chul (Department of Pediatrics, Inje University College of Medicine, Sang-gye Paik Hospital) ;
  • Han, Yu Sok (Department of Pediatrics, Inje University College of Medicine, Sang-gye Paik Hospital) ;
  • Lee, Hong Jin (Department of Pediatrics, Hallym University College of Medicine, Chun-cheon Sungsim Hospital) ;
  • Kim, Heung Dong (Department of Pediatrics, Yonsei University College of Medicine)
  • 강훈철 (인제대학교 의과대학 상계백병원, 간질센터, 소아과학교실) ;
  • 한유석 (인제대학교 의과대학 상계백병원, 간질센터, 소아과학교실) ;
  • 이홍진 (한림대학교 의과대학 춘천성심병원, 소아과학교실) ;
  • 김흥동 (연세대학교 의과대학, 소아과학교실)
  • Published : 2004.05.29
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Abstract

3-Methylcrotonyl-CoA carboxylase (MCC) is a biotin-dependent enzyme involved in 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 the viral gastroenteritis and then, has suffered from Lennox-Gastaut syndrome. Urinary organic acid analysis revealed increased excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. This patient was managed with leucine restriction diet and supplementation of biotin and carnitine but was not so effective. He has suffered from neurologic sequelae such as Lennox-Gastaut syndrome, motor and cognitive impairement.

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