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.
Article
ي Ko
| WPRIM
| ID: wpr-207297
المكتبة المسؤولة:
WPRO
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.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Status Epilepticus
/
Acidosis
/
Biotin
/
Carnitine
/
Hyperammonemia
/
Diet
/
Gastroenteritis
/
Hypoglycemia
/
Leucine
/
Liver
المحددات:
Humans
اللغة:
Ko
مجلة:
Journal of the Korean Child Neurology Society
السنة:
2004
نوع:
Article