• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.546-550
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• 2008

In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals- like the mother of this case- who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/ -; father: P407S/ - ).

• Korean Journal of Food Science and Technology
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• v.28 no.5
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• pp.814-821
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• 1996

An attempt was made to determine the effects of drying methods including shady air drying, presteamed and shady air drying, microwave drying, and freeze drying on the volatile flavor components of Capsella bursapastoris. Essential oils from the samples were isolated by Simultaneous steam distillation-extraction (SDE) method using diethyl ether as solvent. Concentrated samples were analyzed by gas chromatography (GC) and combined gas chromatography-mass spectrometry (GC-MS). Respective 30, 18, 29, and 26 volatile flavor components were identified in shady air dried samples, presteamed and shady air dried samples, microwave dried samples, and freeze dried samples. The kinds and amounts of volatile flavor components evidently depended upon the drying methods. Trimethyl sulfide was regarded as the most abundant component in shady air dried samples, dimethyl trisulfide in presteamed and shady air dried samples, and phytol in microwave or freeze dried samples.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.29-34
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• 2002

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.89-94
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• 2002

Purpose : This study was performed to determine the safety and efficacy of recently developed specific formulas for phenylketonuria(PKU) patient by observing the growth and developmental pattern and serum phenylalanine level. Methods : We observed 14 patients diagnosed with PKU at Soon Chung Hyang University Hospital fed with formula for 1 year by checking daily diet diary and plasma aminoacids, Hb, Hct, WBC, Platelet count, ferritin, GOT, GPT, protein, albumin, globulin and urinalysis. Results : The 14 patients all liked the formula and height, weight and head circumference showed normal growth. Hemoglobin levels were in normal range, but 4 out of the 14 patients showed ferritin level lower than 12 ng/mL and needed iron supplements. Serum albumin, liver enzyme levels, urinalysis showed within normal range. The plasma phenyalanine levels were normal ranged 0.7-15.6 mg/dL. Adverse reactions such as rash, diarrhea or constipation were not observed. Conclusion : We confirmed that the specific formulas for PKU patients developed in Korea, PKU-1 and PKU-2 showed favorable results In development and treatment of PKU patients and could be used safely to children.

• Korean Journal of Food Science and Technology
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• v.27 no.3
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• pp.380-386
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• 1995

An attempt was made to determine the effects of drying methods including shady air drying, presteamed and shady air drying, microwave drying, and freeze drying on the volatile flavor components with Commelina communis L.. Essential oils from the samples were isolated by simultaneous steam distillation-extraction(SDE) method using diethyl ether as solvent. Concentrated samples were analyzed by gas chromatography(GC) and combined gas chromatography-mass spectrometry(GC-MS). Respective 29, 47, 36, and 24 volatile flavor components were identified in shady air dried samples, presteamed and shady air dried samples, microwave dried samples, and freeze dried samples. The kinds and amounts of volatile flavor components were evidently depended upon the drying methods. 6,10,14-trimethylpentadecanone was regarded as the most abundant component in shady air dried samples, 6,10,14-trimethyl-2-pentadecanone in presteamed and shady air dried samples, neophytadiene in microwave dried samples, and ethyl acetate in freeze dried samples.

• Journal of Life Science
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• v.21 no.2
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• pp.292-299
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• 2011

This study compared volatile flavor profiles of 4 commercial vinegar beverages (Italian vinegar beverage (IVB), Japanese vinegar beverage (JVB), Japanese Yuzu-Ponz (JYP), and Korean white wine vinegar beverage (KWVB)). Flavor components of vinegar beverages (VBs) were determined using SPME/GC/MSD. The profiles of VBs were as follows; IVB (11 acids, 17 esters, 10 alcohols, 8 aldehydes, 3 terpenes, 4 aromatic hydrocarbons, 9 ketones), JVB (7 acids, 8 esters, 9 alcohols, 7 aldehydes, 13 terpenes, 7 aromatic hydrocarbons, 1 ketones, 3 miscellaneous compounds), JYP (3 acids, 12 esters, 8 alcohols, 7 aldehydes, 63 terpenes, 6 aromatic hydrocarbons, 2 ketones, 5 miscellaneous compounds), KWVB (10 acids, 10 esters, 9 alcohols, 8 aldehydes, 2 terpenes, 5 aromatic hydrocarbons, 4 ketones, 2 miscellaneous compounds). IVB and JVB showed similar flavor compositions (acids, ketones and esters in particular), whereas major components in JYP and KWVB were terpenes (79.6%) and acids (81.0%), respectively. Five compounds including 2-phenylethyl acetate (floral, fruity, sweet odor), 2-phenylethanol (floral, rose odor), vitispirane (fruity odor), geranylacetone (fragrant odor) and acetic acid were identified as major components in balsamic vinegar beverages.

• Analytical Science and Technology
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• v.17 no.4
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• pp.337-346
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• 2004

7-keto-dehydroepiandrosterone-acetate (7-keto-DHEA-acetate) is an anabolic steroids, and we studied basically to the metabolites of it after human dosing. We tested the matrix effect from human urine to detect the 7-keto-DHEA-acetate. And LC/ESI/MS and GC/MSD was used to detect the metabolites in dosed urine. We found the some unknown compound from dosed urine (M1, M2, M3, M4 and M5), and from these results, we supposed that these compounds have the more than 3 hydroxyl and/or ketone group. Metabolite M1 was supposed that molecular weight is 302 and 3-,17-diketone and 7-hydroxyl compound (7-OH-androstendione). Metabolite M2 was supposed that the molecular weight was same to M1 and 7-,17-diketone and 3-hydroxyl compound (7-keto-DHEA).

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.26-33
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• 2008

Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

• Journal of the Korean Chemical Society
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• v.49 no.2
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• pp.150-154
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• 2005

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.147-154
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• 2015

Purpose: 3HB and AcAc are two ketone bodies that can be used as energy source in brain via succinyl-CoA:3-ketoacid CoA transferase (SCOT) and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2), called ketolysis. In case of malfunction of these enzymes, ketolysis cannot occur fluently causing various clinical manifestations. We want to know the numbers of patients and clinical manifestations of ketolytic defects in Korea. Material: For 67 patients of ketolytic defects out of 2794 patients that have done urine organic acid analysis, we analyzed clinical manifestations and age distribution. The study period was from January 2007 to September 2015. Method: To confirm persistency of ketonuria, repeated and loading organic acid analysis were done at least 1 week period interval. SPSS was used for statistical analysis. Result: Thirty patients in infantile period (2 M-2 Y), 31 patients in childhood period (2 Y-12 Y), 5 patients after adolescent period (>12 Y) and 1 in neonatal period were diagnosed during the study period. The most frequent chief complaint was seizure followed by seizure with developmental delay and developmental delay only. Conclusion: Ketolytic defects were not so rare in Korea. Major clinical manifestations are seizure and developmental delay or mental retardation.