| Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients |
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Hee Jeong Cheong1, Hye Rim Kim1, Seong Soo Lee1, Eun Joo Bae1, Won Il Park1, Hong Jin Lee1, Hui Chul 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 |
| 복합 열성경련 환자의 소변 유기산 분석에서 나타난 유전대사질환 |
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정희정1, 김혜림1, 이성수1, 배은주1, 박원일1, 이홍진1, 최휘철2 |
1한림대학교 의과대학 소아과학교실
2한림대학교 의과대학 신경과학교실 |
Correspondence:
Hong Jin Lee, Email: hongjlee@hallym.or.kr
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| 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. |
| Key Words:
Seizure, Febrile, Complex, Organic acid, Urine |
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