• The Journal of Internal Korean Medicine
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• v.37 no.2
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• pp.368-373
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• 2016

Objective: This case reports on the efficacy of herbal medicine treatment for trimethylaminuria.Method: A 29-year-old female Korean patient with trimethylaminuria received herbal medicine treatment for three months. We evaluated her symptoms with the methacholine challenge test and OralChroma.Results: The odor intensity shown in the methacholine challenge test demonstrated improvement.Conclusion: Herbal medicine treatment could improve trimethylaminuria symptoms.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.6
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• pp.588-593
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• 2019

This study aimed to report three new cases of an association between two rare conditions, congenital portosystemic shunts (CPSS) and trimethylaminuria (TMAU), and the efficacy of endovascular closure of the CPSS for resolving TMAU. Between November 2014 and April 2017, 15 patients with CPSS were enrolled in this prospective study to assess the efficacy of percutaneous endovascular shunt closure. Three patients presented with clinical symptoms of TMAU that were confirmed by urine analysis of trimethylamine (TMA) and TMA n-oxide. One year after endovascular closure of the congenital portosystemic shunt, the same parameters were evaluated were obtained and the values were compared to the pretreatment values. The results indicated the disappearance of clinical symptoms of TMAU and normalization of the urine test parameters in two patients and no changes in one patient, who developed new portosystemic communications.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.2
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• pp.147-162
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• 2022

Purpose: To design a prospective study on endovascular closure of congenital portosystemic shunts. The primary endpoint was to assess the safety of endovascular closure. The secondary endpoint was to evaluate the clinical, analytical and imaging outcomes of treatment. Methods: Fifteen patients (age range: 2 days to 21 years; 10 male) were referred to our center due to congenital portosystemic shunts. The following data were collected prior to treatment: age, sex, medical history, clinical and analytical data, urine trimethylaminuria, abdominal-US, and body-CT. The following data were collected at the time of intervention: anatomical and hemodynamic characteristics of the shunts, device used, and closure success. The following data were collected at various post-intervention time points: during hospital stay (to confirm shunt closure and detect complications) and at one year after (for clinical, analytical, and imaging purposes). Results: The treatment was successful in 12 participants, migration of the device was observed in two, while acute splanchnic thrombosis was observed in one. Off-label devices were used in attempting to close the side-to-side shunts, and success was achieved using Amplatzer™ Ductus-Occluder and Amplatzer™ Muscular-Vascular-Septal-Defect-Occluder. The main changes were: increased prothrombin activity (p=0.043); decreased AST, ALT, GGT, and bilirubin (p=0.007, p=0.056, p=0.036, p=0.013); thrombocytopenia resolution (p=0.131); expansion of portal veins (p=0.005); normalization of Doppler portal flow (100%); regression of liver nodules (p=0.001); ammonia normalization (p=0.003); and disappearance of trimethylaminuria (p=0.285). Conclusion: Endovascular closure is effective. Our results support the indication of endovascular closure for side-to-side shunts and for cases of congenital absence of portal vein.

• Clinical and Experimental Pediatrics
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• v.60 no.3
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• pp.94-97
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• 2017

Trimethylaminuria (TMAuria), known as "fish odor syndrome," is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3). Most TMAuria cases are caused by missense mutations, but nonsense mutations have also been reported in these cases. Here, we describe the identification of a novel FMO3 gene mutation in a patient with TMAuria and her family. A 3-year-old girl presented with a strong corporal odor after ingesting fish. Genomic DNA sequence analysis revealed that she had compound heterozygous FMO3 mutations; One mutation was the missense mutation p.Val158Ile in exon 3, and the other was a novel nonsense mutation, p.Ser364X, in exon 7 of the FMO3 gene. Familial genetic analyses showed that the p.Val158Ile mutation was derived from the same allele in the father, and the p.Ser364X mutation was derived from the mother. This is the first description of the p.Ser364X mutation, and the first report of a Korean patient with TMAuria caused by novel compound heterozygous mutations.

• Bulletin of the Korean Chemical Society
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• v.31 no.2
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• pp.483-486
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• 2010

• The Korean Journal of Physiology and Pharmacology
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• v.8 no.4
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• pp.213-218
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• 2004

Primary fish-odor syndrome (FOS) is a genetic disorder caused by defective flavin-containing mono-oxygenase 3 gene (FMO3) with deficient N-oxidation of trimethylamine (TMA), causing trimethylaminuria (TMAU). By contrast, secondary FOS can be acquired by decreased FMO activities in patients with chronic liver diseases, but the underlying mechanisms are unknown. In the present study, we examined plasma NOx concentrations and viral DNA contents as well as in vivo FMO activities and their correlations in chronic viral hepatitis (CVH) patients. Plasma concentration of NOx was significantly increased by 2.1 fold $(56.2{\pm}26.5\;vs.\;26.6{\pm}5.4\;{\mu}M,\;p<0.01)$, and it was positively correlated with plasma hepatitis B virus (HBV) DNA contents $(r^2=0.2838,\;p=0.0107)$. Furthermore, the elevated plasma NOx values were inversely and significantly correlated with in vivo FMO activities detected by ranitidine-challenged test $(8.3%\;vs.\;20.0%,\;r^2=0.2109,\;p=\0.0315)$. TMA N-oxidation activities determined in CVH patients without challenge test were also significantly low (73.6% vs. 95.7%, p< 0.05). In conclusion, these results suggested that secondary FOS could be acquired by the endogenously elevated NO in patients with CVH.