• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.77-84
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• 2017

Purpose: From the early 1990's, use of Tandem mass spectrometry in neonatal screening test, made early stage detection of disorders that was not detectable by the previous methods of inspection. This research aims to evaluate the frequency of positive results in national neonatal screening test by Tandem mass spectrometry and its usefulness. Methods: A designated organization for inherited metabolic disorder executed neonatal screening test on newborns using Tandem mass spectrometry from January 2006 to December 2015, followed by the investigation of these data by the Planned Population Federation of Korea (PPFK), and this research analyzed those inspected data from the PPFK. Results: Among total childbirth of 4,590,606, from January 2006 to December 2015, 3,445,238 were selected for MS/MS and conduction rate was 75.1%. 261 out of the selected 3,445,238 were confirmed patients and for last decade, detection rate of total metabolic disorder was 1/13,205. In 261 confirmed patients, 120 had an amino acid metabolic disorder and its detection rate was 1/28,710 and 110 had an organic acid metabolic disorder and detection rate was 1/31,320. Also, 31 had a fatty acid metabolic disorder and detection rate was 1/13,205. Conclusion: Inherited metabolic disorder is very rare. Until now, it was difficult to precisely grasp an understanding on the national incidence of inherited metabolic disorder, due to lack of overall data and inconsistent and incomplete long-term result analysis. However, this research attempted to comprehensively approach the domestic incidence, by analyzing previous 10 years of data.

• Journal of Society of Preventive Korean Medicine
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• v.22 no.3
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• pp.83-89
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• 2018

Objectives : The aim of this study was to investigate expert opinions on the questions contained in a questionnaire for diagnosing blood stasis accompanying metabolic disorders. Methods : Two rounds of Delphi survey were conducted online targeting on one hundred Korean medicine doctors. Respondents rated the appropriateness of the 30 questions in diagnosing metabolic disorder on a five-point scale, anchored at '5 = very appropriate', '4 = appropriate', '3 = somewhat appropriate', '2 = inappropriate', and '1 = very inappropriate'. Results : The mean score on 30 questions of first and second Delphi survey was 3.26 points and 3.31 points, respectively. The ranking of the top 10 questions that were rated as appropriate for diagnosing blood stasis accompanying metabolic disorder were 'sublingual varices', 'reddish black tongue', 'reddish black gum', 'reddish black lips', ''dark purple palatal mucosa and venous edema', 'night pain, 'ecchymosis of the tongue', 'piercing pain', 'ecchymosis of the skin' and 'prolonged numbness'. Conclusions : The experts agreed that three of the most typical symptoms of blood stasis and the conditions of capillary vessels in the tongue or the oral cavity were highly associated with metabolic disorder, whereas the questions related to abdominal pain lacked an association with metabolic disorders.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.2
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• pp.37-45
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• 2022

Inherited metabolic disorders (IMD) are a large group of rare disorders affecting normal biochemical pathways. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the optic nerve, and extraocular muscles. Eye disorders can be initial symptoms of some IMD and can be clue for diagnosis of IMD. However, eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. Awareness of IMDs is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

• Korean Journal of Veterinary Research
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• v.62 no.2
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• pp.15.1-15.8
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• 2022

The objective of this study was to identify risk factors for repeat breeder dairy cows and their impact on reproductive performance. The characteristics of 1,504 cows, including their peripartum health, nutrition, production, and reproduction, were collected. Cows with metabolic disorder were significantly more likely (odds ratio [OR], 2.47; p < 0.001) and cows with clinical endometritis tended to be more likely (OR, 1.35; p < 0.1) to become repeat breeders than cows without metabolic disorder and clinical endometritis, respectively. Cows initially inseminated > 80 days after calving were less likely (OR, 0.78; p < 0.05) to become repeat breeders than cows initially inseminated ≤ 80 days after calving. As a result, repeat breeding in dairy cows resulted in a 90 day longer (p < 0.0001) mean interval from calving to pregnancy. In conclusion, postpartum metabolic disorder, clinical endometritis, and a short interval from calving to initial insemination were risk factors for repeat breeder dairy cows, resulting in a severely impaired reproductive performance.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.1 no.1
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• pp.64-71
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• 2001

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.6-14
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• 2006

Propionic acidemia is an autosomal recessive metabolic disorder caused by a defect of propionyl CoA carboxylase with resultant accumulation of toxic organic acid metabolites. This disorder is biochemically characterized by metabolic acidosis, ketoacidosis, hyperglycinemia and hyperammonemia. Clinical symptoms are very heterogeneous and present as a severe neonatal-onset or a late-onet form. We describe one case of propionic acidemia in a 4-year-old boy who has developed gait disturbance after acute metabolic decompensation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.1 no.1
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• pp.48-53
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• 2001

• Clinical and Experimental Pediatrics
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• v.51 no.12
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• pp.1290-1294
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• 2008

Seizures are a frequent symptom in metabolic disorders, although metabolic disorders are rarely found to be the cause of epilepsy. A precise diagnosis might not only influence treatment, but it might also call for counseling of the family, even if there are no direct therapeutic consequences. We review the main characteristics of epilepsy in metabolic disorders with regard to energy metabolism, toxic effects, neurotransmitters, and vitamins.