Korean J Pediatr.  2009 Feb;52(2):199-204. 10.3345/kjp.2009.52.2.199.

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

• Cheong HJ
• Kim HR
• Lee SS
• Bae EJ
• Park WI
• Lee HJ
• Choi HC

• KMID: 2281676
• DOI: http://doi.org/10.3345/kjp.2009.52.2.199

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.
METHODS
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.

Keyword

Seizure; Febrile; Complex; Organic acid; Urine

MeSH Terms

Acetyl-CoA C-Acetyltransferase
Acidosis
Acyl-CoA Dehydrogenase
Amino Acid Metabolism, Inborn Errors
Biotinidase Deficiency
Brain Diseases, Metabolic, Inborn
Electron Transport
Fever
Humans
Hydroxybutyrates
Hyperammonemia
Hypoglycemia
Isovaleryl-CoA Dehydrogenase
Ketosis
Maple Syrup Urine Disease
Metabolic Diseases
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Propionic Acidemia
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Retrospective Studies
Risk Factors
Seizures
Seizures, Febrile
Acetyl-CoA C-Acetyltransferase
Acyl-CoA Dehydrogenase
Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Hydroxybutyrates
Isovaleryl-CoA Dehydrogenase