• Clinical and Experimental Pediatrics
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• v.49 no.3
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• pp.329-331
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• 2006

Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolized due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of the urine upon standing. The disease leads to such serious consequences as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic acid and a dietary restriction of protein may decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid. A thirteen month-old girl was recently diagnosed with alkaptonuria by urine organic acid analysis. She excreted pinkish urine on a diaper and as time went by the urine color changed to a light brown. In laboratory findings, urine examination and culture results were normal. But urine organic acid analysis detected abnormal findings a prominent and massive elevation of homogentisic acid. The other physical findings were normal. This is the first case diagnosed in Korea.

• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.3 no.2
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• pp.177-187
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• 1993

The exposure levels of mixed organic solvents for 66 exposed workers in six paint manufacturing plants were evaluated. In 66 exposed workers and 30 control subjects, we also determined the concentrations of toluene and xylene metabolites, hippuric acid, ($o^-$, $m^-$, and $p^-$)methylhippuric acid. The results were as follow ; 1. Seven organic compounds, which on averge accounted for approximately 90% of the identified mass in each painting plants air samples, were selected for quantification : methyl ethyl ketone, ethyl acetate, methyl isobutyl ketone, toluene, butyl acetate, ethyl benzene, ($o^-$, $m^-$, $p^-$)xylene. 2. The average mixed organic solvent exposure levels in 66 points with workplce were 3.8ppm of MEK, 12.2ppm of ethyl acetate, 4.0ppm of MIBK, 28.7ppm of toluene, 3.8ppm of butyl acetate, 10.2ppm of ethyl benzene, 14.6ppm of xylene, respectively. 3. For the total 66 points with workplace, the rate of them of which mixed solvents in air was exceeded th TLV of 1.0 were obtained for 23%(15/66 point). 4. The concentrations of hippuric acid in urine of exposed group and control were $0.94{\pm}0.65g/g$ of creatinine, $0.16{\pm}0.11g/g$ of creatinine, respectively. 5. There was a linear correlation between the end shift hippuric acid acid levels in urine and exposed toluene in air : y=0.02079X+494.2, r=0.6488, n=55 y:hippuric acid in urine(mg/g of creatinine), x:toluene levels in air(ppb) Toluene levels of 100ppm in air have been caculated to hippuric acid of 2.57g/g of creatinine in urine. 6. There was a linear correlation between the end shift methylhippuric acid acid levels in urine and exposed xylene in air : y=0.01664X+31.6, r=0.7264, n=55 y:methylhippuric acid in urine(mg/g of crea.), x:xylene levels in air(ppb) Xylene levels of 100ppm in air have been caculated to methylhippuric acid of 1.69g/g of creatinine in urine.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.123-134
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• 2016

Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Diagnosis of mitochondrial disease is difficult, subtle, and has many problems. It is more likely to miss the diagnosis of mitochondrial disease, especially in borderline cases where the symptoms of the disease are not severe. In this regard, urine organic acid analysis is noninvasive and can increase the sensitivity and specificity through repeated load test with few changes according to the specimen. And, It is considered to be suitable as a screening test for mitochondrial diseases because it has a great advantage of distinguishing from organic aciduria, urea cycle disorder and fatty acid oxidation disorder which may have similar symptoms. The purpose of this study was to investigate the clinical features and age distribution of mitochondrial diseases diagnosed by organic acid analysis and to establish the policy of diagnosis and treatment based on this study.

• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.3 no.2
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• pp.166-176
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• 1993

In order to investingate the renal dysfunction in workers exposed to aromatic organic solvents, 105 male exposed workers and 109 controls were participated in this study. This study was conducted to examine the correlation among the concentration of aromatic organic solvents in air, worker's urinary NAG activity and urinary hippuric acid. The results were as follows : 1. The exposure level of aromatic organic solvent mixture caculated by the equation proposed by ACGIH was ranged from 0.27 to 0.54 and toluene concentration was ranged from 18.3ppm to 48.3ppm. 2. NAG activity in the urine of control and exposed group were $36.1{\pm}14.2nmolMU/mg$ creatinine and $52.4{\pm}26.1nmolMU/mg$ creatinine, respectively. Hippuric acid concentration in the urine of control and exposed group were $191.1{\pm}194.2mg/g$ creatinine and $789.3{\pm}784.1mg/g$ creatinine, respectively. 3. Correlation coefficent between the exposure level of aromatic organic solvent mixture was significantly related to urinary NAG activity(r=0.542) and urinary hippuric acid(r=0.752). 4. Correlation coefficient between NAG activity and hippuric acid concentration was 0.357. This study suggested that urinary NAG activity was a good renal function index for aromatic organic solvents exposure and urinary hippuric acid was an index for the biological monitoring of toluene exposure.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.65-71
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• 2015

Since the secretion of specific chiral isomers in urine (or plasma) is very crucial to diagnose some inborn metabolic disorders, clinical application of dual column achiral differential method has been performed for the absolute configuration of chiral compounds. Extracted from the acidified urine with diethyl ether, carboxylic functional group of organic acid (stereoisomers of the volatile) was derivatized with (-)-menthylation or (S)-(+)-3-methyl-2-butylation and followed by O-trifluoroacylation. Each of the enantiomers was accurately separated from the library matched double column (achiral) with a retention index (I). In various inborn metabolic disease urines, absolute chirality was identified correctly in the urine (10 patients) with inborn metabolic disease (including secretion of D, L- lactic acid, D, L-3-hydroxybutyric acid, and D, L-2-hydroxyglutaric acid). In this study, we identified and isolated the volatile diastereomer as a useful diagnostic marker, this successful application to urine specimens may be useful for diagnostic classification of inherited metabolic disorders.

• Journal of Electrochemical Science and Technology
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• v.10 no.4
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• pp.416-423
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• 2019

A novel non-enzymatic oxalic acid (OA) sensor based on the platinum/carbon black-nickel-reduced graphene oxide (Pt/CBNi-rGO) nanocomposite is reported. The nanocomposites were prepared by the ethylene glycol reduction method. Their morphology and chemical composition were characterized by scanning electron microscopy (SEM), energy dispersive X-ray spectroscopy (EDX) and transmission electron microscopy (TEM). The results clearly demonstrated the formation of the Pt/CB-Ni-rGO nanocomposite. The electrocatalytic activity of the Pt/CB-Ni-rGO electrode was investigated by cyclic voltammetry. It was determined that the appropriate amount of Pt enhanced the catalytic activity of Pt for oxalic acid electro-oxidation. Moreover, the modified electrode was determined to be highly selective for oxalic acid without interference from compounds commonly found in urine including uric acid and ascorbic acid. The chronoamperometric signal gave a wide linearity range of 20 μM-60 mM and the detection limit (3σ) was found to be 2.35 μM. The proposed method showed high selectivity, stability, and good reproducibility and could be used with micro-volumes of sample for the detection of oxalic acid. Finally, the oxalic acid content in artificial and control urine samples were successfully determined by our proposed electrode.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.17-24
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• 2023

Purpose: In the past, detection of metabolic abnormalities in plasma amino acid (PAA) and urine organic acid (UOA) has been widely used to diagnose clinical mitochondrial diseases, such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). In this study, the diagnostic values of PAA and UOA were reviewed, and their effectiveness in the diagnosis of MELAS was examined retrospectively. Methods: Blood and urine samples at the time of diagnosis were collected from all clinically diagnosed MELAS patients (n=31), and PAA and UOA tests were performed. All samples were collected in a fasting state to minimize artifacts in the results. The difference in the ratio of abnormal metabolites of PAA and UOA at initial diagnosis was statistically compared between the MELAS with genetic confirmation (n=19, m.3243A>G mutation) and MELAS without genetic confirmation (n=12) groups. The MELAS without genetic confirmation group was used as control. Results: Comparison of PAA and UOA between the two groups revealed that no abnormal metabolites showed characteristic differences between gene-confirmed MELAS patients with and those without genetic confirmation. Conclusions: Abnormal values of metabolites in PAA or UOA might be useful as a screening test but are not sufficient to diagnose MELAS patients.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.199-204
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• 2009

Purpose : Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids. Method : We retrospectively analyzed and compared the results of urine organic acid analysis with routine laboratory findings in 278 patients referred for complex febrile seizure. Results : Of 278 patients, 132 had no abnormal laboratory findings, and 146 patients had at least one of the following abnormal laboratory findings: acidosis (n=58), hyperammonemia (n=55), hypoglycemia (n=21), ketosis (n=12). Twenty-six (19.7 %) of the 132 patients with no abnormal findings and 104 (71.2%) of the 146 patients with statistically significant abnormalities showed abnormalities on the organic acid analysis (P<0.05). Mitochondrial respiratory chain disorders (n=23) were the most common diseases found in the normal routine laboratory group, followed by PDH deficiency (n=2) and ketolytic defect (n=1). In the abnormal routine laboratory group, mitochondrial respiratory chain disorder (n=29) was the most common disease, followed by ketolytic defects (n=27), PDH deficiency (n=9), glutaric aciduria type II (n=9), 3-methylglutaconic aciduria type III (n=6), biotinidase deficiency (n=5), propionic acidemia (n=4), methylmalonic acidemia (n=2), 3-hydroxyisobutyric aciduria (n=2), orotic aciduria (n=2), fatty acid oxidation disorders (n=2), 2-methylbranched chain acyl CoA dehydrogenase deficiency (n=2), 3-methylglutaconic aciduria type I (n=1), maple syrup urine disease (n=1), isovaleric acidemia (n=1), HMG-CoA lyase deficiency (n=1), L-2-hydroxyglutaric aciduria (n=1), and pyruvate carboxylase deficiency (n=1). Conclusion : These findings suggest that urine organic acid analysis should be performed in all patients with complex febrile seizure and other risk factors for early detection of inherited metabolic diseases.

• Analytical Science and Technology
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• v.13 no.1
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• pp.121-126
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• 2000

The aim of this study is to assess the interference effect of other organic acids to the values of hippuric acid analysed by UV method. We calculated the interference effect of several metabolites of styrene and xylene, i.e., methylhippuric acid, phenylglyoxylic acid, and mandelic acid to hippuric acid, respectively. The result of interlaboratory quality control program of urinary hippuric acid showed that there was no significant difference between the results by UV and HPLC if there were no other organic acids in urine. However, 0.5-2.0 g/L methylhippuric acid showed positive interference of 64-82% to 0.33 g/L urinary hippuric acid while mandelic acid or phenylglyoxylic acid did not show this positive effect. We suggest that HPLC or GC method is more acceptable than UV method to analyse urinary hippuric acid for biological monitoring when the worker was exposed to mixture of toluene and xylene.

• YAKHAK HOEJI
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• v.26 no.4
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• pp.223-229
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• 1982

Uremia is associated with defective protein binding of weakly acidic drugs, whereas the protein binding of basic drugs tends to be normal. The exact chemical nature of compound(s) and mechanism for these changes as yet is unknown, and has not been defined. Organic solvent extraction of pooled normal human urine following hydrolysis by hydrochloric acid produced an extract, which when added to normal human serum, was capable of inducing binding defects similar to those in uremia. Binding defects were observed with the weakly acidic drugs such as nafcillin, salicylate, sulfamethoxazole and phenytoin while the binding of the basic drugs such as trimethoprim and quinidine were unaffected. The binding defects induced by the hydrolyzed urine extract could readily be corrected by same organic solvent extraction of acidified serum and the defects could be transferred to the normal human serum using the organic solvent layer at the physiologic pH (7.4). Followed by reacidification ind extraction of the binding defects induced serum with the same solvent, separated several fractions were obtained on thin-layer chromatography. One of these fractions could reinduce the binding defects and this factor(s) is apparently weakly acidic compounds and tightly bound to serum at physiologic pH, but extractable at acidic pH, and its molecular weight range is approximately 500 or less similar to those seen in uremia. These findings strongly support the hypothesis that the drug binding defect in uremia is due to the accumulation of endogenous metabolic products which arc normally excreted by the kidneys but accumulate in renal failure.