• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.50-54
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• 2018

Jehovah's Witnesses do not accept blood transfusions, because of their particular interpretation of the Old and New Testaments. When people with such religious convictions are in need of medical care, their faith and belief may become an obstacle for proper treatment, and pose legal, ethical, and medical challenges for the health care providers. We report two inherited metabolic disorder cases in South Korea where the infants died whilst under medical care because of parental refusal of blood transfusions for religious reasons. Case 1 had methylmalonic acidemia, Down syndrome and associated congenital cardiac anomalies requiring surgery. Case 2 had anemia and methylmalonic acidemia requiring dialysis to treat hyperammonemia and metabolic acidosis. For effective medical management, they needed life-saving blood transfusions. As a part of alternative treatment, Erythropoietin was administered in both cases. As a result, two babies died from their extremely low hemoglobin and hematocrit. The hemoglobin concentrations below 2.7 g/dL without cardiac problem and 5.4 g/dL with cardiac anomaly complicated by pulmonary hypertension are considered life-threatening hemoglobin threshold. The medical professional must respect and accommodate religious beliefs of the patients who can make informed decisions. However, when parents or legal guardians oppose medical treatment of their babies and incompetent care receivers on cultural and religious grounds, the duty to assist and save persons exposed to serious danger, particularly life-threatening events must come first.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.31-38
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• 2023

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.

• Journal of Society of Preventive Korean Medicine
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• v.11 no.2
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• pp.41-70
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• 2007

The purpose of this study was to identify a tendency in patients who seek oriental medical service and factors influencing patient satisfaction. The study was conducted with 1,520 residents of a community during the period from February 5, 2005 through June 30, 2005 using a questionnaire. This study results are summarized as follows : 1. Of subjects who sought oriental medical service, 66.2% had musculoskeletal disorder and connective tissue disease, 18.9% had digestive tract disease, 16.4% had respiratory disease, 8.2% had endocrinemetabolic disease, 7.5% had circulatory disease and the remaining subjects had other diseases(p<0.001). 2. Of subjects who sought oriental medical service for the treatment of musculoskeletal disorder, 84.9% preferred acupuncture. Of those who had digestive tract diseases, 47.0% preferred packaged herbal medicine. Of those who had respiratory disease, 63.0% preferred packaged herbal medicine. 3. Acupuncture was the most often sought by subjects with musculoskeletal disorder. Packaged herbal medicine was sought by subjects with respiratory disease, digestive tract disease, endocrine-metabolic disease or circulatory disease. Tablet-type herbal medicine was sought by subjects with musculoskeletal disorder or digestive tract disease. Combined therapy was sought by subjects with musculoskeletal disorder, digestive tract disease, hematopoietic disease or immune disorder. 4. The level of satisfaction with oriental medical service was higher in subjects with circulatory disease, subjects with digestive tract disease, subjects with neurological disorder and subjects with musculoskeletal disorder in descending order. Of total subjects, 39.4% experienced side effects of oriental medical care, 38.1% experienced side effects of herbal medicine. About 51.9% considered the price of herbal medicine costly while 23.2% considered it reasonable. 5. Subjects' knowledge of herbal medicine was measured as $29.2{\pm}3.83$ out of 42 scores or 69 out of 100 points, indicating a low knowledge level. Subjects' knowledge was influenced by occupation, religion, side effects, sex, age, residence area, the type of insurance. These variables explained 15.2% of the variance. 7. Of total subjects, 56.8% were satisfied with oriental medical service. Patient satisfaction varied with occupation, religion, the type of insurance, health state and treatment outcomes. These variables explained 37.3% of the variance. Conclusion : The majority of subjects were satisfied with oriental medical service. However, oriental medical care are not widely used to treat all kinds of diseases while its use skews to a small categories of diseases. It is therefore necessary for the government and oriental medical service providers to develop new therapy approaches for the treatment of a broader range of diseases.

• 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 Genetic Medicine
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• v.5 no.1
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• pp.21-25
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• 2008

Purpose : In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea. Methods : From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis. Results : The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 1:5,000 and that in the total group was 1:2,000. Conclusion : Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy.

• Journal of Veterinary Clinics
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• v.28 no.4
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• pp.352-356
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• 2011

Abstract: This study was aimed to diagnose acid-base disorders of dogs with canine parvoviral enteritis (CPE) and data to establish a rational fluid therapy regimen for patients with CPE. A total of 43 dogs which had clinical signs of CPE and had detected canine parvovirus by polymerase chain reaction, were bled anaerobically from jugular vein at the time of admission. Blood chemical test, determination of electrolytes and blood gas analysis were conducted, and calculated values were obtained from each measured items. The values of blood chemical and electrolytes of dogs with CPE were various depending on the degree of clinical signs, and these tests were not specific to diagnose for CPE. Hypochloremia (20.9%), hyperchloremia (11.6%), hypokalemia (7.0%), hyperkalemia (11.6%), hyponatremia (9.3%) and hypernatremia (18.6%) were diagnosed as abnormalities of electrolytes from 43 dogs with CPE. The 29 out of 43 dogs (67.4%) were metabolic acidosis and 3 dogs (7.0%) were metabolic alkalosis. The acid-base status of 11 dogs out of 43 dogs (25.6%) was normal.

• Toxicological Research
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• v.18 no.4
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• pp.349-354
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• 2002

Inflammatory bowel disease (IBD) is a multifactorial disorder with unknown etiology and pathogenesis. Eupatilin, a kind of flavonoids, has been known to be effective for chronic diarrhea in Korea. In this study, we have investigated the genotoxicity of DA-6034, a new synthetic derivative of Eupatilin, wing in vitro and in viuo system such as Ames reverse mutation test, chromosomal aberration test and micronucleus test. in Ames reverse mutation test, DA-6034 treatment at the dose range up to 5,000 $\mu\textrm{g}$/ plate did not induced mutagenicity in Salmonella typhimurium TA98, TA100, TA102, TA1535, TA1537 with and without metabolic activation. Any significant aberration wasn't observed in chinese hamster lung(CHL) fibroblast cells treated with DA-6034 at the concentration of 5, 2.5, 1.25 mg/ml both in the absence and presence of metabolic activation system. In mouse micronucleus test, no significant increase in the occurrence of micronucleated polychromatic erythrocytes was observed in ICR male mice orally administered with DA-6034 of the doses of 2.0, 1.0, 0.5 g/kg. These results indicate that DA-6034 has no mutagenic potential under the condition in this study.

• CELLMED
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• v.10 no.1
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• pp.5.1-5.6
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• 2020

In the present highly changing era, every dimension from Technology to Education, Environment to Sanitation and from Agriculture to our Food basket is getting changed. Our experiences say that the most affected ethnic group from this rapidly changing pattern of our food intake, lifestyle are our adolescent. This is also a fact that our adolescent passes their 2/3 of time of a day in their schools. In this regard our school system needs to formulate their comprehensive approach to Health for our adolescents. On other hand Ayurveda, the ancient Indian system of Medicine had expressed views on a concept of Holistic Health thousand years ago. This research article is an attempt of borrowing this valuable concept from Ayurveda and suggesting to introduce them into our comprehensive school health programme such as concept of wellness, quality of life, Holistic Health and measures related to diet and lifestyle for preservation, promotion of health and prevention of disorders etc. This manuscript also evaluates the existing approaches of school health programmes towards current scenario. Now a day's our food habits, dietary intake and the life style are not at the level of satisfactory condition this lead to early onset of metabolic chronic disorder especially in our adolescents because on the basis of age-immunity relationship they are easily targeted. The chronic metabolic disorders results into overweight, obesity, anxiety, mental trauma, distress, over- fatigued, incapable for physical work, getting tired soon. This article provides a space to rethink and reformulate our school health programmes in light of our ancient tradition of medicine.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.58-62
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• 2006

Gaucher disease is an inherited disorder due to a deficiency in the activity of glucocerebrosidase (EC. 3.2.1.45) by genetic mutation which resulted from missense, nonsense, frameshift, deletion in long arm 21 of chromosome 1 (1q21). Gaucher disease is classified into the main three types as type 1 (nonneuronopathic), type 2 (acute neuronopathic) and type 3 (subacute neuronopathic) according to the progressive phase of manifestations and nervous system involvement. Gaucher disease patients had been treated by using the method as splenectomy and bone marrow transplantation. But enzyme replacement therapy as a more effective treatment has been available since the early 1990's. In order to treat Gaucher disease efficiently by using ERT, it is necessary to chase the progress of the therapy. In this study, therefore, we tried to chase the progress of the ERT by using the measurement of chitotriosidase activity in Gaucher disease patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.32-39
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• 2006

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of ${\beta}$-galactosidase and ${\alpha}$-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically characterized by psychomotor deterioration, cerebellar ataxia, coarse facies, generalized bony deformity and organomegaly. Three phenotypic subtype are recognized: early infantile, late infantile and juvenile/adult type. We report a 13 months old boy with a late infantile galactosialidosis. He was presented with progressive mental regression and motor disturbance and observed cherry red spot, hearing loss, moderate dysostosis multiplex and vacuolated lymphocytes in peripheral blood. He showed only ${\beta}$-galactosidase deficiency in the lymphocytes and was initially diagnosed as $GM_1$-gangliosidosis type 1. However, further studies revealed the possible defect of ${\alpha}$-neuraminidase suggesting that he was a case of galactosialidosis which was mimicking $GM_1$-gangliosidosis type 1.