A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency
Journal of the Korean Child Neurology Society
;
: 92-98, 2004.
Article
in Korean
| WPRIM
| ID: wpr-207297
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Status Epilepticus
/
Acidosis
/
Biotin
/
Carnitine
/
Hyperammonemia
/
Diet
/
Gastroenteritis
/
Hypoglycemia
/
Leucine
/
Liver
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
2004
Type:
Article
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