• 대한유전성대사질환학회지
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• 제23권1호
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• pp.1-11
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• 2023

Inborn errors of metabolism encompass a wide variety of disorders, frequently affecting bone. This review presents a comprehensive retrospect on the primary involvement of bone in inborn errors of metabolism. Primary involvement of bone in inborn errors of metabolism includes entities that primarily affect the bone marrow, mineral component or cartilage. These include lysosomal storage disorders, hypophosphatasia, and hereditary hypophosphatemic rickets. In this review, we discuss the primary involvement of bone in inborn errors of metabolism (hypophosphatasia, X-linked hypophosphatemic rickets, Gaucher disease, and mucopolysaccharidoses) along with the therapeutic agents used in clinical settings, diagnostic strategies, and general management. With the development of disease-specific targeted therapies and supportive care, more number of patients with these disorders live longer and survive into adulthood. Moreover, skeletal symptoms have become a more prominent feature of these disorders. This makes the awareness of these skeletal symptoms more important.

• 대한유전성대사질환학회지
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• 제13권1호
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• pp.20-29
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• 2013

Inborn error of metabolism usually presents with a constellation of clinical pictures involving multiorgan systems. Because of its rarity and clinical diversity, it is difficult to make diagnosis accurately and efficiently. Many inborn error of metabolism shows predominantly hepatic symptoms and signs. The onset of symptoms is also varying depending the disease. The onset might be even prenatal, either neonatal or infantile, and late childhood. The major manifestation patterns are jaundice or cholestasis, hepatomegaly with or without splenomegaly, hypoglycemia and acute or chronic hepatocellular dysfunction. Based on pronounced hepatic symptoms and onset of symptoms, differential diagnosis can be more easily made with subsequent further laboratory investigation. In this review paper, major inborn error of metabolism with hepatic symptoms are described from the perspective of mode of clinical presentations.

• Clinical and Experimental Pediatrics
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• 제62권2호
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• pp.43-47
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• 2019

Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism. High levels of ammonia are extremely neurotoxic, leading to astrocyte swelling, brain edema, coma, severe disability, and even death. Thus, emergency treatment for hyperammonemia must be initiated before a precise diagnosis is established. In neonates with hyperammonemia caused by an inborn error of metabolism, a few studies have suggested that peritoneal dialysis, intermittent hemodialysis, and continuous renal replacement therapy (RRT) are effective modalities for decreasing the plasma level of ammonia. In this review, we discuss the current literature related to the use of RRT for treating neonates with hyperammonemia caused by an inborn error of metabolism, including optimal prescriptions, prognosis, and outcomes. We also review the literature on new technologies and instrumentation for RRT in neonates.

• 대한유전성대사질환학회지
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• 제15권2호
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• pp.65-71
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• 2015

Since the secretion of specific chiral isomers in urine (or plasma) is very crucial to diagnose some inborn metabolic disorders, clinical application of dual column achiral differential method has been performed for the absolute configuration of chiral compounds. Extracted from the acidified urine with diethyl ether, carboxylic functional group of organic acid (stereoisomers of the volatile) was derivatized with (-)-menthylation or (S)-(+)-3-methyl-2-butylation and followed by O-trifluoroacylation. Each of the enantiomers was accurately separated from the library matched double column (achiral) with a retention index (I). In various inborn metabolic disease urines, absolute chirality was identified correctly in the urine (10 patients) with inborn metabolic disease (including secretion of D, L- lactic acid, D, L-3-hydroxybutyric acid, and D, L-2-hydroxyglutaric acid). In this study, we identified and isolated the volatile diastereomer as a useful diagnostic marker, this successful application to urine specimens may be useful for diagnostic classification of inherited metabolic disorders.

• Journal of Microbiology and Biotechnology
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• 제23권5호
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• pp.689-698
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• 2013

The production and characterization of an active recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in Escherichia coli BL21(DE3) has been previously reported. In this study, the effect of the signal peptide (SP), inducer concentration, process scale, and operational mode (batch and semi-continuous) on GALNS production were evaluated. When native SP was presented, higher enzyme activity levels were observed in both soluble and inclusion bodies fractions, and its removal had a significant impact on enzyme activation. At shake scale, the optimal IPTG concentrations were 0.5 and 1.5 mM for the strains with and without SP, respectively, whereas at bench scale, the highest enzyme activities were observed with 1.5 mM IPTG for both strains. Noteworthy, enzyme activity in the culture media was only detected when SP was presented and the culture was carried out under semi-continuous mode. We showed for the first time that the mechanism that in prokaryotes recognizes the SP to mediate sulfatase activation can also recognize a eukaryotic SP, favoring the activation of the enzyme, and could also favor the secretion of the recombinant protein. These results offer significant information for scaling-up the production of human sulfatases in E. coli.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.94-107
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• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• 대한유전성대사질환학회지
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• 제21권1호
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• pp.1-6
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• 2021

Among the various etiologies of cardiomyopathy, inborn errors of metabolism (IEM) is one of the underlying causes, especially in the pediatric population. The accurate identification of the IEM of cardiomyopathy may lead to better prognosis through disease-specific management. Therefore, clinicians should always keep in mind the possibility that IEM may be one of the underlying etiologies of cardiomyopathy, and carry out multi-systematic clinical approach to diagnosis of IEM. This review covers the pathophysiology, clinical presentations, typical laboratory findings, diagnosis, and proper treatment of each type of IEM-induced cardiomyopathy in pediatric patients to gain a deeper understanding of this subject.

• 대한유전성대사질환학회지
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• 제22권2호
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• pp.46-52
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• 2022

Inborn errors of metabolism (IEM) are very rare and genetically transmitted diseases and have man y different symptoms related with multisystemic involvement. More rarely, endocrinopathies can be an early and first symptom of IEM, but presents with signs of later complications in adolescent or adulthood. The mechanisms of endocrine dysfunction in IEM are poorly understood. Hypogonadotropic hypogonadism is common in hemochromatosis, adrenoleukodystrophy, galactosemia, and glycogen storage disease. Many girls with classic galactosemia are at high risk for premature ovarian insufficiency (POI), despite an early diagnosis and good control. Mitochondrial diseases are multisystem disorders and are characterized by hypo- and hypergonadotrophic hypogonadism, thyroid dysfunction and insulin dysregulation. Glycogen storage disorders (GSDs), especially type Ia, Ib, III, V are assocciated with frequent hypoglycemic events. IEM is a growing field and is not yet well recognized despite its consequences for growth, bone metabolism and fertility. For this reason, clinicians should be aware of these diagnoses and potential endocrine dysfunction.

• 대한유전성대사질환학회지
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• 제23권1호
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• pp.12-16
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• 2023

Patients with inborn metabolic disorder (IMD) show multisystemic manifestations. Heterogenous renal manifestations can develop in IMD patients as well. In this review, the major renal manifestations of IMD and their representative IMDs are described. The major renal manifestations include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and glomerulopathy, and diverse types of IMDs such as carbohydrate metabolism disorders, lysosomal disorders, organic acidemias, mitochondrial disorders, purine and pyrimidine disorders present renal manifestations. Therefore, general and regular renal function evaluation is recommended in addition to specific investigation according to IMD phenotypes.

• 한국산학기술학회논문지
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• 제15권10호
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• pp.6056-6065
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• 2014

본 연구는 한국 도시거주자의 목적 지향성향 척도 개발에 관한 연구이다. 목적지향성향의 개념을 정립하기 위하여 종교적 학문적 연구를 참조하고 기존의 생산성이나 성공적 노화 또는 삶의 질 척도를 검토하였다. 그 결과 설문을 위해 57개의 문항을 작성하였으며 목회자, 신학대학교수, 사회복지사 등의 축조심의를 거쳐 44개 문항으로 예비문항을 만들었다. 이후 응답자로부터의 효과적 설문을 위해 통계전문 교수와 중복조항 제거, 체계적인 연구 모델 수립을 위해 당해 전문 교수의 검토를 통해 문항을 수정하여 최종 27개 문항을 확정하였다. 수도권을 중심으로 설문을 실시하여 380부를 수집한 후 요인분석을 한 결과 측정도구의 타당성을 검증하였으며, "존재의 인지", "자율적 삶", "자기완성", "적극성", "수용성", "경제성" 등 6개의 하위 요인으로 분류되었다. 신뢰도의 경우 Cronbach's ${\alpha}$값이 0.6 이상으로 신뢰할만한 수준이었다.