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

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

본 증례는 MCC를 동반한 Lennox-Gastaut 증후군 환아로, 비교적 양성 경과를 보이는 것으로 알려진 연령에 발생하였으나, 난치성 간질을 포함한 신경학적 휴유증의 경과를 보인 환아로, 임상 증상과 함께 이중질량분석기(Tandem mass spectrometry)를 이용한 유전 대사 질환의 선별 검사로 조기에 진단이 내려질 경우 보존적 치료로 보다 나은 임상 경과를 기대할 수 있어 MCC 결핍증에 대한 인식이 요구된다 하겠다.

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 gastro-enteritis 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.