A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency.
- Author:
Yu Sok HAN
1
;
Hoon Chul KANG
;
Hong Jin LEE
;
Heung Dong KIM
Author Information
1. Department of Pediatrics, Inje University College of Medicine, Sang-gye Paik Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
3-Methylcrotonyl-CoA carboxylase deficiency;
Reye syndrome-like illness;
Lennox-Gastaut syndrome
- MeSH:
Acidosis;
Biotin;
Carnitine;
Diet;
Gastroenteritis;
Humans;
Hyperammonemia;
Hypoglycemia;
Leucine;
Liver;
Metabolism;
Status Epilepticus
- From:
Journal of the Korean Child Neurology Society
2004;12(1):92-98
- CountryRepublic of Korea
- Language:Korean
-
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.