• Applied Biological Chemistry
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• v.47 no.4
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• pp.403-408
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• 2004

We studied active substances like crude cell wall components, crude protein, composing amino acids and free amino acids including orinithine cycle-related amino acids such as asparagine, ornithine and citrullin in fully ripe fruits of Korean native squash, Cucurbita moschata Poir. Crude protein content of 'Jeju 2' was the highest with $2,830\;{\mu}g/g$, while 'Sangju' was the lowest with $1,319\;{\mu}g/g$. Regarding the contents of crude cell wall components, fruit 'Kanghaw' was the highest with 2,961 mg% while 'Namhea' was the lowest with 1,582 mg%. Pectin contents of crude cell wall components were the highest in 'Kanghaw' (2,198 mg%) followed by 'Jeju 2' (2,178 mg%) and 'Jeju l' (1,461 mg%). The main contents of amino acids in squash were glutamic acid, aspartic acid, lysine, leucine and valine, which comprised to be more than 50% of total amino acid contents. Especially, in 'Jeju 2' aspartic acid and threonine were not detected. In fully ripe fruits, a total of 34 kinds of free amino acids were detected including 8 kinds of essential amino acids (histidine, isoleucine, leucine, lysine, phenylalanine, methionine, threonine and valine). More than 50% of the total free amino acids were aspartic acid and asparagine, and also all varieties were detected in ornithine, citrullin, and arginine, which are related to Ornithine cycle. There was a big difference in the contents of arginine in all varieties whereas the contents of ornithine and citrullin were very similar. 'Teaan' 29.34% was 7 times higher than 'Namhea' 4.30% in regards to arginine contents.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.96-107
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• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• Korean Journal of Food Science and Technology
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• v.45 no.3
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• pp.345-349
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• 2013

Physicochemical characteristics of Citrullus lanatus cv. Mudeungsan and 5 other cultivars of Citrullus lanatus were investigated. The color of watermelon (redness) was not significantly different among the cultivars. Hardness ranged from 38.76 to 52.12 force (g) among cultivars. Soluble solid content in Taeyangggul and Mudeungsan were higher than that in other cultivars. pH ranged from 5.39 to 6.02 among cultivars, and total acidity was the highest in Mudeungsan (0.147 mg/100 g). No significant difference in total carotenoid content was observed among the cultivars. Lycopene content in Mudeungsan cultivar was higher than that in other cultivars. Citrullin contents of watermelon flesh and rind in Mudeungsan and GangryeokSambok were higher than those in other cultivars. The major free sugars of watermelon were sucrose and fructose, and the predominant organic acids were succinic acid and citric acid. In conclusion, Mudeungsan cultivar had better properties as outlined above and contained soluble solids and functional components, compared to the other watermelon cultivars.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.29-34
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• 2015

Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.

• Applied Biological Chemistry
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• v.47 no.4
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• pp.409-413
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• 2004

We have studied quality changes of fully ripe fruit of Korean native pumpkin 'Yangsan' regarding the following parameters: pH, sugar content, weight, water content, contents of crude protein and amino acids during 60 days storage at room temperature. As the results, there was no changes in sugar contents according to the storage period, but pH was changing to a little acidic direction with slight decrease in weight and water content. Contents of total crude proteins and comprising amino acids were increased during the storage period. The main contents of amino acids of the Korean native pumpkin, Yangsan, were glutamic acid (15.5%), aspartic acid (10.1%), lysine (8.7%), valine (7.5%), leucine (7.1%) and alanine (6.6%), which were not highly influenced during storage period. Additionally we have investigated the content of free amino acids and color changes during processing of Yangsan under high temperature at $121^{\circ}C$ and high pressure at $1\;kg/cm^2$. In fully ripe fruits, a total of 29 kinds of free amino acids were detected including 8 kinds of essential amino acids (histidine, isoleucine, leucine, lysine, phenylalanine, methionine, threonine and valine). More than 35% of total free amino acids were aspartic acid (20.3%) and asparagine (15.4%); ornithine, citrullin, and arginine, which are related to Ornithine cycle, were also detected in fully ripe fruits. But when treated with high temperature and high pressure, glutamic acid and arginine were decreased rapidly whereas ammnonium chloride was relatively increased. Moreover "b" value as yellow color indicator was decreased from 17.45 to 9.14 while treated for 60 minutes with high temperature and pressure, caused by the degradation of ${\beta}-carotene$ and other yellowish pigments in Yangsan.