All issues > Volume 52(2); 2009

Original Article

Korean J Pediatr. 2009;52(2):199-204. Published online February 15, 2009.

Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients

Hee Jeong HJ Cheong¹, Hye Rim HR Kim¹, Seong Soo SS Lee¹, Eun Joo EJ Bae¹, Won Il WI Park¹, Hong Jin HJ Lee¹, Hui Chul HC Choi²

¹Department of Pediatrics, College of Medicine, Hallym University, Chuncheon Sacred Heart Hospital, Chuncheon, Korea
²Department of Neurology, College of Medicine, Hallym University, Chuncheon Sacred Heart Hospital, Chuncheon, Korea

Correspondence Hong Jin HJ Lee ,Email: hongjlee@hallym.or.kr

Abstract

Purpose
: Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids.
Method
: We retrospectively analyzed and compared the results of urine organic acid analysis with routine laboratory findings in 278 patients referred for complex febrile seizure.
Results
: Of 278 patients, 132 had no abnormal laboratory findings, and 146 patients had at least one of the following abnormal laboratory findings: acidosis (n=58), hyperammonemia (n=55), hypoglycemia (n=21), ketosis (n=12). Twenty-six (19.7 %) of the 132 patients with no abnormal findings and 104 (71.2%) of the 146 patients with statistically significant abnormalities showed abnormalities on the organic acid analysis (P<0.05). Mitochondrial respiratory chain disorders (n=23) were the most common diseases found in the normal routine laboratory group, followed by PDH deficiency (n=2) and ketolytic defect (n=1). In the abnormal routine laboratory group, mitochondrial respiratory chain disorder (n=29) was the most common disease, followed by ketolytic defects (n=27), PDH deficiency (n=9), glutaric aciduria type II (n=9), 3-methylglutaconic aciduria type III (n=6), biotinidase deficiency (n=5), propionic acidemia (n=4), methylmalonic acidemia (n=2), 3-hydroxyisobutyric aciduria (n=2), orotic aciduria (n=2), fatty acid oxidation disorders (n=2), 2-methylbranched chain acyl CoA dehydrogenase deficiency (n=2), 3-methylglutaconic aciduria type I (n=1), maple syrup urine disease (n=1), isovaleric acidemia (n=1), HMG-CoA lyase deficiency (n=1), L-2-hydroxyglutaric aciduria (n=1), and pyruvate carboxylase deficiency (n=1).
Conclusion
These findings suggest that urine organic acid analysis should be performed in all patients with complex febrile seizure and other risk factors for early detection of inherited metabolic diseases.

Keywords :Seizure, Febrile, Complex, Organic acid, Urine