Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients / 소아과
Korean Journal of Pediatrics
;
: 199-204, 2009.
Artigo
em Coreano
| WPRIM
| ID: wpr-157914
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 laboratoryfindings:
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acetil-CoA C-Acetiltransferase
/
Convulsões
/
Acidose
/
Doença da Deficiência de Piruvato Carboxilase
/
Doença da Deficiência do Complexo de Piruvato Desidrogenase
/
Estudos Retrospectivos
/
Fatores de Risco
/
Convulsões Febris
/
Encefalopatias Metabólicas Congênitas
/
Hiperamonemia
Tipo de estudo:
Estudo de etiologia
/
Estudo observacional
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2009
Tipo de documento:
Artigo
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