• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Journal of the Korean Society of Food Culture
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• v.23 no.2
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• pp.222-227
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• 2008

This study examined the chemical composition of lotus root and functionally evaluated a fermented lotus root drink. Electron-donating ability using DPPH along with nitrite-scavenging ability were used to compare the antioxidative activities of unfermented and fermented lotus root drinks. The electron-donating abilities of the unfermented lotus root drink (1%) and fermented lotusroot drink (1%) were 22.55% and 23.88%, respectively. At pH 6.0, the nitrite-scavenging abilities of the unfermented lotus root drink and the fermented lotus root drink (100%) were 27.64% and 40.3%, respectively, and their scavenging ability increased in a dose-dependent manner at all pH values. In order to study the anti-obesity effects of the two drinks, male Sprague-Dawley rats were divided into four groups (A: basal diet, B: high fat diet, C: high fat diet+unfermented lotus root drink, D: high fat diet+fermented lotus root drink). Net weight gains were not significantly different among the four groups. Plasma total cholesterol concentrations significantly decreased in the groups receiving the unfermented and fermented lotus root drinks. Also, plasma total lipid and triglyceride contents were lower in the groups receiving the unfermented and fermented lotus root drinks as compared to the high fat diet group; however, the differences among the three groups were not significant.