J Korean Child Neurol Soc.  2004 May;12(1):92-98.

A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency

  • 1Department of Pediatrics, Inje University College of Medicine, Sang-gye Paik Hospital, Seoul, Korea.
  • 2Department of Pediatrics, Hallym University College of Medicine, Chun-cheon Sungsim Hospital, Chuncheon, Korea.
  • 3Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. hdkimmd@yumc.yonsei.ac.kr


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.


3-Methylcrotonyl-CoA carboxylase deficiency; Reye syndrome-like illness; Lennox-Gastaut syndrome
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