The Clinical Analysis of Children Who Increase Urine gamma-hydroxybutyric Acid with Seizure Disorder / 대한소아신경학회지

PURPOSE: This study was performed to analyse urine gamma-hydroxybutyric acid(GHB) in children with seizures, and to investigate the pattern of seizures and neurologic abnormalities in children related with gamma-hydroxybutyric aciduria. METHODS: We reviewed retrospectively medical records of children who admitted to our hospital with seizures between August 1. 2001 and February 28. 2003. We compared urine GHB levels with controls, and also analyzed the clinical features of patients who showed increased urine GHB. RESULTS: The mean urine GHB was 1.7+/-1.6 mmol/mol cr in febrile seizures, 1.8+/-2.5 mmol/mol cr in non-febrile seizures, and 1.8+/-2.0 mmol/mol cr in controls. Compared with control group, there was no significant difference in urine GHB levels(P>0.05). In 8 of 64 children with seizures, GHB levels increased above 2 standard deviation of normal controls. The types of seizure in children who showed increased urine GHB were generalized tonic clonic seizure in 3 patients, complex partial seizure in 2 patients, febrile seizure in 2 patients, and benign Rolandic epilepsy in 1 patient. 3 patients showed neurologic abnormalities, 4 patients showed electroencephalographic abnormalities, and 2 patients of 6 patients who performed brain imaging study showed brain imaging abnormalities. CONCLUSION: Children with gamma-hydroxybutyric aciduria should be suspected succinic semialdehyde dehydrogenase deficiency as a cause of underlying disease.

The Effect and Factors Affecting on Lipid Status of Valproate Therapy in Children with Epilepsy / 대한소아신경학회지

PURPOSE: Antiepileptic drugs may alter serum lipid status in epileptic patients. We conducted this study to assess the effect of valproate on serum levels of total cholesterol(TC), triglycerides(TG), low-density lipoprotein(LDL), high-density lipoprotein(HDL), and TC/HDL ratio, and to investigate the factors affecting serum lipid status in children with epilepsy who had been receiving valproate therapy. METHODS: Thirty epileptic children(16 males, 14 females, mean age 7.4+/-3.3 years) were evaluated for serum lipid status at the onset and the 6, 12 and 24 months of valproate therapy, and were analysed changes and potential factors of affecting changes such as sex, body mass index, valproate concentration, in serum lipid levels during valproate therapy. RESULTS: TC were significantly lowered during first 12 months of valproate theraphy (P<0.05). LDL were lowered during first 12 months. HDL and TC/HDL ratio were not changed and TG were increased during valproate theraphy but not reach to statistical significance. TC, TG, LDL, and HDL return to pretreatment levels after 24 months of valproate theraphy. TC, LDL, HDL, and TC/HDL ratio changes were not significantly different by sex and initial body mass index, but TG were significantly increased in group of BMI below 20(P<0.05). LDL levels were significantly decreased correlation to serum valproate concentration(r=-0.2915. P<0.05). CONCLUSION: Our results suggest that valproate therapy would not increase a risk for atherosclerotic disorders in adulthood, but weight gain with a metabolic consequence of obesity would increase risk for atherosclerotic disorders in adulthood.

The Pattern of Weight Gain and Change of Peripheral Serum Lipid Profiles in Idiopathic Epileptic Children Treated with Valproate / 대한소아신경학회지

PURPOSE: This study was performed to investigate the change of weight and body composition, and lipid profiles in the idiopathic epileptic children treated with valproate. METHODS: We measured the weight, height, left arm circumference, left triceps skinfold thickness of 30 idiopathic epileptic children treated with valproate before, at 1 month and 4 months of treatment. We also analyzed the serum lipid profiles of the patients before and at 4 months of treatment. We analyzed the change of Body Mass Index (BMI), Arm Muscle Area(AMA), Arm Fat Area(AFA), and the serum lipid profiles. Two-way analysis of variance, chi-square test and paired-t test were used for statistical analysis. RESULTS: There was no statistically significant change in BMI, AFA, AMA of the patients. But the weight of 13(44.3%) children increased greater than 10% with valproate treatment. AMA were not changed, but AFA were significantly increased, 791.2+/-209.6 mm2 before treatment, 858.1+/-246.6 mm2 at 1 month, 1051.7+/-393.2 mm2 at 4 months, in 13 patients, whose weight gain were greater than 10%(P<0.05). There was no change in cholesterols, low density lipoproteins, high density lipoproteins of the 30 children. CONCLUSION: The increase of the weight in the children treated with valproate resulted from the increase body fat. So the weight gain may be a risk factor of obesity

Organic Acidemias in Korea: Three Years Experience of Organic Acid Analysis

PURPOSE: We have done this retrospective study to know the relative incidences and clinical manifestations of organic acidopathies in Korea. METHODS: The results of quantitative organic acid analysis of 1,125 samples of 712 patients, referred from Jul. 1997 to Jun. 2000, were analyzed retrospectively according to four age groups (-2 mon, 3 mon-2 year, 3 years-12 years, over 12 years) and major clinical manifestations. Quantification of 83 organic acids was done with gas chromatography and mass spectrometry(GC/MS). RESULTS: We diagnosed 214 patients with 27 diseases of organic acid metabolism during this study period. Diseases found more than 10 cases are cytosolic 3-ketothiolase deficiency, mitochondrial repsiratory chain disorders, PDHC deficiency, glutaric aciduria type II and propionic aciduria. Other diseases were diagnosed in less than 10 cases, mostly one or two cases during this study period. Most of the patients had some symptoms of neurological dysfunction such as seizure activity(195 patients), developmental delay(122), mental retardation(99), hypotonia(84), movement disorders(81) and vomiting(68). CONCLUSION: Though the incidence of individual organic acidemia is low, the overall incidence of organic acidemia as a whole seems to be relatively high in Korea. Most of the patients showed some signs of neurological dysfunction.