• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.87-92
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• 2015

Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.

• Journal of agricultural medicine and community health
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• v.48 no.2
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• pp.132-143
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• 2023

Objectives: We aimed to describe the reporting patterns of 6 notifiable surveillance diseases in the Republic of Korea, including water- and foodborne infections, from 2012 to 2021. Methods: For the 12,296 cases that met the reporting criteria, we calculated the number of reported cases, including the number of cases confirmed by lab tests or suspected by a physician, the number of cases with delayed reporting and their average days of delay, and the median days required to report the confirmatory test results. Results: The overall number of reported cases consistently increased over the ten years, with a significant rise in the reported cases of typhoid fever, paratyphoid fever, and EHEC. Ninety-five percent of all reported cases were timely reported within one day of diagnosis. Vibrio vulnificus had the highest rate of delayed reporting (6.8% delayed over 1 day, 3.0% delayed over 3 days), while cholera had the lowest rate (1.9% delayed over 1 day, 0.1% delayed over 3 days). The average days of delayed reporting was 6.1 days: the highest for paratyphoid fever (10.8 days) and the lowest for cholera (2.7 days). For typhoid fever and paratyphoid fever, there has been an increase in the proportion of cases with negative test results. For vibrio vulnificus, there has been an increase in the proportion of cases with confirmed positive test results. As for EHEC, there has been a recent increase in cases with no confirmatory tests. Conclusions: Reported cases of water- and foodborne infectious diseases increased, indicating improved surveillance system completeness. However, for paratyphoid fever, improvements are needed in terms of timely notification by healthcare facilities and timely reporting of confirmatory test results.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.7 no.1
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• pp.128-131
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• 1996

소아들의 음성장애의 대부분은 음성과 기능에 의한 성대의 오용 및 남용으로부터 기인한다. 그러나 음성장애에 대한 인식의 부족으로 인하여 소아의 음성장애 발견율은 극히 낮은 수준에 머므르고 있다. 치료에 있어서도 행동의 통제가 그다지 쉽지 않기 때문에 많은 어려움이 따른다. 본 연구는 소아의 음성장애의 발생경위와 문제의 설명과 차팅에 의한 남용의 감소에 초점을 둔 치료사례이다. 5세 아동의 심한 음성장애로 의뢰되어졌다. 음성증후는 목쉰소리, 기식화된 소리, 일시적인 발성일탈(phonation break) 등이 두드러졌다. 이비인후과 전문의의 스트로보스코프(stroboscope) 검진결과 초기 양측성 성대결절이 성대 앞쪽으로부터 1/3 지점에서 발견되었으며 비지피치(Visi-Pitch)로 측정된 퍼터베이션(perturbation 수치가 16.8이었다. 사례사 조사 과정에서 아동이 활동적이며 자주 고함을 지르고 자동차놀이를 주로하며 많은 시간을 보낸다는 것이 밝혀졌다. 중재 프로그램은 우선 문제를 설명하고 인식시키는 것과 고함을 지르거나 자동차놀이를 하면서 자동차 소음을 흉내내는 등의 음성남용 회수를 감소시키는 것에 초점을 두었다 17회의 치료로 성대결절이 감소되었고 퍼터베이션은 3.8로 저하되었으며 아동 스스로 음성남용을 통제할 수 있다는 임상적 판단하에 치료를 종결하였다. 1개월 후 추후 검사에서 남용적인 습관이 여전히 나타나지 않았으며 음성상태도 양호하였다. 소아 음성장애의 치료는 소아가 이해할 수 있는 용어로 문제의 인식을 확실히 시키고 행동을 체계적으로 통제할 수 있는 치료프로그램을 실행시키는 임상가의 자질이 대단히 중요하다. 그러나 그에 못지 않게, 많은 시간을 아동과 함께 보내는 부모나 교사의 협력이 치료의 성패를 좌우할 수 있다.조구와 처리구간에 차이가 없었다. 그러나 유지방 함량의 경우 대조구가 3.22%, 처리구가 3.37%로 처리구가 0.15% point 증가했으나 유의차는 없었다. Fan ＋ sprinkler가 설치된 시설에서 사육된 젖소에서 생산된 우유내 체세포수는 대조구에 비해 26.63%가 감소되었으나 유의차는 발견할 수 없었다. 이상의 시험 결과에서 볼 때 fan ＋ sprinkler를 이용한 방서 방법은 고온 stress를 완화시켜 유생산성의 증가에 기여할 수 있는 하나의 방법이라고 본다.을 알 수가 있었다.없다. 본 논문의 대상은 바로 이러한 합성 동사성명사의 논항구조와 동사성명사에 의해 하위범주화된 논항들의 문법적 실현양상이다..그 결과 심리적 특성과 사용자 수용 특성은 아바타 수용도에 부분적으로 영향을 미친다는 것 결과가 나타났다.웨어 프로세스 평가와 개선 모델의 개발을 위한 기초적인 자료를 제공할 것으로 예상된다 또한, 본 연구 결과는, 우리나라 소프트웨어 조직들이 실제로 무엇을 필요로 하는지를 밝힘으로써, 우리나라의 소프트웨어 산업을 육성하기 위한 실효성 있는 정책 입안을 위한 기초 자료를 제공할 것으로 예상된다.다.를 검증하려고 한다. 협력체계 확립, ${\circled}3$ 전문인력 확보 및 인력구성 조정, 그리고 ${\circled}4$ 방문보건사업의 강화 등이다., 대사(代謝)와 관계(關係)있음을 시사(示唆)해 주고 있다.ble nutrient (TDN) was highest in booting stage (59.7%); however no significant difference was found among other stages. The concentrations of Ca and P were not

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.1-11
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• 2019

Purpose: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The purpose of the present study was to determine the incidence of CH in South Korea during the period from January 1991 to March 2004. Methods: Central data from each city branch of SCL (Seoul Clinical Reference Laboratories) in Yongin, South Korea, was gathered and collectively analyzed. Newborn screening (NBS) for CH was based on measuring the levels of neonatal thyroid stimulating hormone (TSH) and free T4 (a cut-off of 20 mIU/L and less than 0.8 ng/dL, respectively). Results: During the study period, 671,805 live births were screened for CH based on TSH and free T4 ELISA assays. A total of 159 newborns were deemed positive for CH out of 671,805, with a corresponding incidence of 1 in 4,225. When a cut-off of 20 mIU/L was used in TSH assays, the associated sensitivity, specificity, and positive predictive values (PPV) were 100.0%, 99.7%, and 10.8%, respectively. When a cut-off of 0.8 ng/dL in free T4 assays was used, the associated sensitivity, specificity, and PPV were 100.0%, 98.5%, and 3.9%, respectively. Conclusion: CH incidence in South Korea as evidenced by the results of NBS was compared with its incidence and comparable to the other countries prior to 2004.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.69-76
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• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.57-61
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• 2016

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.78-86
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• 2015

Purpose: Homocystinuria (OMIM#236200) is a metabolic disease caused by mutation in the CBS gene. This study was conducted to identify the clinical features and prognosis of homocystinuria as well as to find out the CBS gene mutations of the six homocystinuria patients who were receiving treatment in the Pediatric Department at Soonchunhyang University Hospital. Methods: From January 1992 to March 2015, clinical, biochemical, and genetic analyses were performed retrospectively on the six patients diagnosed with classic homocystinuria at Soonchunhyang University Hospital. Results: A total of six patients were included in this study, including three who were diagnosed with homocystinuria at the mean age of $50{\pm}22.5$ days based on their abnormal newborn screening test results. The other three were diagnosed at the mean age of 7, when they visited the hospital for evaluation of developmental delay and lens dislocation. The group diagnosed at early infancy had normal cognitive function, but the other group had varying degrees of mental retardation. Major complications were found only in the group diagnosed after infancy. CBS gene mutation was found in all the patients, and they were all non-responsive to vitamin B6 treatment. At present, all patients' diets are controlled following a methionine-free formula and they are on medication with folic acid, betaine, pyridoxine, and methylcobalamin. Conclusion: Six homocystinuria patients were monitored for up to 23 years. The group diagnosed at early infancy exhibited no major complications. Therefore, early diagnosis is crucial in the prognosis, and homocystinuria must be included in the newborn screening program.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.49-53
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• 2012

X-linked adrenoleukodystrophy (ALD) is a rare inherited metabolic disease which results in impaired peroxisomal ${\beta}$-oxidation and the accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex, the myelin of the central nervous system, and the testes. X-linked ALD is caused by mutations in the ABCD1 gene encoding an ATP-binding cassette transporter superfamily located in the peroxisomal membrane. This disease is characterized by a variety of phenotypes. The classic childhood cerebral ALD is a rapidly progressive demyelinating condition affecting the cerebral white matter before the age of 10 years in boys. We report the case of a 8-year-old with childhood cerebral X-linked ALD who developed inattention, hyperactivity, motor incoordination and hemiparesis. We diagnosed ALD with elevated plasma very long chain fatty acid level and diffuse high signal intensity lesions in both parieto-occipital white matter and cerebellar white matter in brain MRI. We identified a novel c.983delT (p.Met329CysfsX7) mutation of the ABCD1 gene. There is no correlation between X-ALD phenotype and mutations in the ABCD1 gene. Further studies for searching additional non-genetic factor which determine the phenotypic variation will be needed.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.35-39
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• 2015

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.