• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.108-112
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• 2012

Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-${\alpha}$-D-glucan 4-${\alpha}$-D-glycosyltransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) that occur at separate active sites on a single polypeptide chain. Most patients with GSD type III usually have symptoms related to decreased glycogenolysis in liver and muscles, such as hepatomegaly, hypoglycemia, failure to thrive, hyperlipidemia, muscle weakness and cardiomyopathy (type IIIa), however some patients show symptoms restricted to liver (type IIIb). GSD type III is diagnosed by enzyme test through liver or muscle biopsy or mutation analysis of the AGL gene. We report the case of GSD type III proven by gene study after liver biopsy, which revealed c.476delA, c.3444_3445insA in exon 6, 27 of AGL gene in Korean patient.

• Journal of Environmental Health Sciences
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• v.47 no.3
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• pp.245-258
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• 2021

Objectives: In many previous studies, endocrine disruptors (EDCs) have been found to affect delays in puberty. Various EDCs have been reported on, but there have been only limited epidemiologic studies on the effects of exposure to environmental heavy metals and pyrethroid pesticides on puberty delay. Therefore, the aim of this study was to investigate the association of exposure to environmental mercury, cadmium, and pyrethroid pesticides with delayed puberty in children based on national survey data that represents Korean children. Methods: We selected 450 children at the ages of 9-11 years old from the third Korean National Environmental Health Survey (3rd KoNEHS). The relations of urinary Hg, Cd, and 3-PBA with pubertal development were evaluated using multiple logistic regression analyses. Results: Urinary Hg levels were significantly associated with delayed puberty in boys [testicle development: OR=0.41 (95% CI: 0.20, 0.84); genitalia development: OR=0.35 (95% CI: 0.15, 0.81)]. Girls with higher Hg levels were more likely to experience delayed menarche [OR=0.23 (95% CI: 0.06, 0.90)]. We observed a significant 49% reduction in odds for menarche per increasing unit of urinary cadmium levels [OR=0.51 (95% CI: 0.24, 1.01)]. In addition, urinary 3-PBA showed a negative association with genitalia development in boys and menarche in girls [genitalia development: OR=0.73 (95% CI: 0.55, 0.96); menarche: OR=0.56 (95% CI: 0.32, 1.00)]. Conclusions: The results of this study support the hypothesis that exposure to environmental mercury, cadmium and pyrethroid pesticides may affect puberty delays. Additional evidence needs to be obtained through further prospective studies.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.14-22
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• 2012

Objectives: This study was performed to review clinical manifestations of hyperphenylalaninemia patients in Korean. Methods: 178 cases of hyperphenyalaninemia were diagnosed at department of pediatrics, Soonchunhyang University Hospital from January, 1983 to August. We reviewed DNA analysis, MR imaging, EEG, radiography of the left hand and wrist, bone densitometry (BMD), IQ test of hyperphenyalaninemia patients. Results: Out of 178 cases, 161 cases were diagnosed classic phenylketonuria and 17 cases were diagnosed BH4 deficiency. 122 cases performed DNA analysis. R243Q (10.3%), Y204C (9.9%), and IVS4-1G>A (8.1%) mutations were predominant. 22 cases underwent MR imaging. Varying degrees of symmetrical high signal intensity were noted on T2-weighted sequences in the periventricular deep white matter of 15 cases. 23 cases were performed EEG. 12 cases (52.3%) showed abnormal pattern. EEG abnormalities showed in 11 cases. On lumbar BMD four of 11 cases (36%) showed reduced bone density of more than 1 S.D. in four of 11 cases, bone age was less than chronological age by at least one year. 18 cases were performed IQ test. Mean IQ scores was $84{\pm}21.6$. Among older than 15 years (9 cases), Mean IQ scores was $72{\pm}21.2$. PTPS deficiency was 14 cases, DHPR deficiency was 2 cases, and GTPCH deficiency was 1 case. Conclusion: We confirmed there were varieties of DNA mutations. And MR imaging and EEG were nonspecific in PKU patients. Older children showed lower IQ score. Low phenylalanine diet prevents brain damage in PKU patient. Not only first few years of life but also lifetime, Keeping low phenylalanine diet is important.

• The Korean Journal of Nuclear Medicine Technology
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• v.26 no.1
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• pp.38-41
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• 2022

Purpose Testosterone is a steroid hormone synthesized by the Leydig cells of the testes in men, and by the adrenal cortex and ovaries in women. Testosterone production is regulated by luteinzing hormone secreted by the anterior pituitary gland. In this experiment, the effectiveness of testosterone radioimmunoassay (RIA) kits produced by three companies was evaluated and compared in case the production of testosterone kits was stopped or supply problems occurred. Materials and Methods In October 2021, samples were collected from the patients (n=49) who requested the testosterone RIA test. The experiment was conducted by dividing the patient's sample into low concentration (1.0 ng/mL or less), medium concentration (2.0-4.0 ng/mL) and high concentration (6.0 ng/mL or more). The Testosterone RIA test compared and evaluated the validity of Company A kits used in this hospital and those of Company B and C used in other hospitals. The precision, sensitivity, recovery, linearity and correlation were evaluated for each kit. The testosterone RIA test was carried out in accordance with the insert kit manual for each manufacturer. Results As a result of measuring the precision of the intra assay, the Coefficient of Variation (CV) value of the company A kit was high at 11.4% only in the low concentration sample, and in the case of the company B and C kits, the CV value was less than 10% at low, medium, and high concentrations. In the inter-assay precision measurement, the CV value was less than 15% in both A and C kits, but in the case of the B kit, the CV value exceeded 15% at low and medium concentrations. Sensitivity was 0.13 ng/mL for company A, 0.01 ng/mL for company B, and 0.01 ng/mL for company C, and the linearity of all three kits showed excellent linearity. In the case of recovery rate, all of the A, B, and C company kits showed results that were out of 90-110%. In the case of correlation test, when compared with the company A kit currently use in here, the correlation coefficient (R²) value for the company B kit was 0.9508, and for the company C kit was 0.9352 Conclusion As a result, there was a slight difference in precision at the low concentration sample. The correlation test showed an excellent correlation coefficient. However, it was difficult to secure samples of various concentrations because there were not many tests of testosterone requested at this hospital. So, additional experiments should be carried out by acquiring samples of various concentrations on each laboratory later.