• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.18-23
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• 2017

${\beta}$-ureidopropionase deficiency (${\beta}$-UPD; OMIM # 613161) is a rare autosomal recessive inborn error of pyrimidine metabolism caused by mutations in the UPB1 gene and approximately 30 cases have been reported in the world. The clinical features of patients with ${\beta}$-UPD have been reported to vary from asymptomatic to severe developmental delays. However, the long-term clinical courses of patients with ${\beta}$-UPD have not yet been reported. A Korean girl was diagnosed with ${\beta}$-UPD at the age of 8 years and 10 months by targeted next-generation sequencing which was subsequently confirmed by Sanger sequencing. She had many clinical features such as poor oral feeding, failure to thrive, global developmental delay, microcephaly, frequent infection, and intractable epilepsy. She died suddenly of an unknown cause at the age of 11 years and 5 months. Here we report the long-term (i.e. lifelong) clinical aspects of a Korean patient with ${\beta}$-UPD.

• Food Science and Preservation
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• v.23 no.6
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• pp.759-764
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• 2016

This purpose of this study was to determine the best enrichment medium for rejuvenating and recovering Salmonella placed in cold temperature prior to the employment of the gold biosensor combined with a light microscopic imaging system. A mixture of nalidixic-resistant Salmonella Typhimurium and Enteritidis were inoculated onto chicken (1,000 CFU/chicken). After cold injury at $4^{\circ}C$ for 24 hr, Salmonella on chicken was enriched for 6 hr with six non-selective media including buffered peptone water broth, lactose broth, brain heart infusion broth (BHI), universal pre-enrichment broth, nutrient broth, and tryptic soy broth, and five selective media including brilliant green broth (BG), rappaport-vassiliadis R10 broth, selenite cystine broth, selenite broth, and tetrathionate brilliant green broth (TBG) for the comparison of Salmonella growth. Various concentrations of Salmonella (10, 50, 100, 500, and 1,000 CFU/chicken) were then enriched for 6 hr in both BHI and BG media to select the best media. BHI was selected as the most effective non-selective enrichment medium, while BG was selected as the most effective selective enrichment medium. Finally, BHI medium was selected as the most efficient enrichment medium for Salmonella growth injured from cold temperature during processing or storage.