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The Optimum Methionine to Methionine Plus Cystine Ratio for Growing Pigs Determined Using Plasma Urea Nitrogen and Nitrogen Balance

  • Qiao, Shiyan;Piao, Xiangshu;Feng, Zhanyu;Ding, Yuhua;Yue, Longyao;Thacker, P.A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.3
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    • pp.434-442
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    • 2008
  • The objective of this study was to determine the optimum ratio of methionine to methionine plus cystine for growing pigs. A nitrogen balance trial was conducted using a total of 21 barrows (Large WhiteLandrace) over two replicates. The initial body weight was $20.36{\pm}1.22kg$ (mean${\pm}$SD) in the first replicate and $23.54{\pm}1.02kg$ (mean${\pm}$SD) in the second. For each replicate, the 21 pigs were randomly assigned to one of seven dietary treatments with three observations per treatment. The diets included a methionine and cystine-deficient basal diet with all other essential nutrients meeting nutrient requirements and six diets formulated with graded levels of DL-methionine (0.00, 0.03, 0.06, 0.10, 0.13, 0.16%) and $L-Cystine{\cdot}HCl{\cdot}H_2O$ (0.19, 0.15, 0.11, 0.07, 0.04, 0.00%). This resulted in ratios of methionine to methionine plus cystine of 41.3, 29.6, 35.3, 41.2, 46.0, 51.6 and 57.5%. Each experimental period lasted 12 days consisting of a seven-day adaptation period followed by a five-day total collection of urine and feces. During the collection period, pigs were fed 900 g/day for the first replicate and 1,200 g/day for the second replicate. The feed was provided in three equal portions at 0800, 1500, and 2200 h daily. Pigs had ad libitum access to water after feeding. There was a linear (p<0.01) and quadratic (p<0.01) effect on daily gain and feed conversion as the ratio of methionine to methionine plus cystine increased. Pigs receiving the diets providing a methionine to methionine plus cystine ratio of 51.6% had the best daily gain and feed conversion. Plasma urea nitrogen was also lowest for this treatment. Nitrogen retention increased (p<0.01) as the relative proportion of methionine increased up to 51.6% and then a downward trend occurred at 57.5%. The quadratic regression model, as well as one- and two- slope regression line models, were used to determine the optimum ratio of methionine to methionine plus cystine. Eliminating the 35.3% methionine to methionine plus cystine treatment resulted in $R^2$ values in excess of 0.92. The optimal ratio of methionine to methionine plus cystine was estimated to be 54.15% for nitrogen retention and 56.72% for plasma urea nitrogen.

A Study of the Additional Toxicity of Mixed Food Additives to Rat (혼합(混合)된 식품첨가물(食品添加物)이 흰쥐의 생리(生理)에 미치는 상승적(相乘的) 독성(毒性) 효과(效果)에 관(關)한 연구(硏究))

  • Chung, Ho-Kwon
    • Applied Biological Chemistry
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    • v.18 no.2
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    • pp.71-97
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    • 1975
  • To improve the food qualities in Korea, two hundred and fourtynine kinds of food additives have been allowed in food processing, of which one hundred and nineteen kinds could be used under the limitted conditions. Hence, in practical uses in food processing, many kinds of them are mixed at random within the permitted amounts for their special purposes. For last several years, many kinds of the food additives were prohibited because they have been proved to be toxic even with the single dose. Until recently a few studies on the toxicity in the mixture of food additives were reported, however, they were shown to be no severe additional effect on the animal. This study was performed to see if any elevation of chronic or subacute toxicity of food additives occur especially when they are mixed with each other, using three kinds of food additives (DHA, AF-2, BHT) most widely used as food preservatives, antiseptics and antioxidants. One hundred and fifty young male rats were taken and divided into ten feeding groups, one first control group (food additives blank), three second control groups (DHA 0.1%, AF-2 0.1%, BHT 0.5%), three mixture groups of low level (mixture of each 60% of two second control level) and three mixture groups of high level (mixture of each 90% of two second control level). As the methods of biological and clinical tests, the change of body weight (growth rate), daily intake of diets, organ to body weight ratio, histopathological findings of organs, hematological observation, liver and kidney function tests were checked three times during the periods of 24 weeks. The following results were obtained. 1. The low level group of DHA, AF-2 mixture and DHA, BHT mixture revealed a little retardation in growth rate than the first control group, however, they were similar to the second controls, while all the mixture groups of high level showed a more remarkable retardation than the first and second controls. 2. Average daily intake of the diets was the same in each group, showing a similar decreasing tendency (70-100g/kg of body weight) in accordance with the growth rate. It was observed that there are no differences in the taste and appetite in each group of rats. 3. Abnormal enlargements of kidney and lung were not seen in all the mixture groups compared with the controls, while a slight hepatomegaly was observed in all mixture groups of low level as in the second controls. Significant differences (almost 1% level) were observed between the high level groups and the first control group. 4. Histopathological effects of the food additives on lung, kidney and liver tissues were found in all mixture group of high level. The less frequencies of the same effects were also seen in the low level groups. 5. The esterified cholesterol to total cholesterol ratio in the mixture groups of high level showed a little lower values, and the activities of serum glutamate oxaloacetate transaminase and alkaline phosphatase decreased almost with significance of 5% level compared with the first control group. The serum A/G ratio in the mixture groups also decreased. The results demonstrated that the liver function was decreased in the mixture groups compared with the controls. 6. In all groups throughout the test period, kidney functions (concentration of protein and creatinine excreated per hour in urine and renal filtration rate) were shown almost as normal as the first control. 7. Average values of hematocrit, erythrocytes and leucocytes in the mixture groups were in the normal ranges as in the controls, which denotes that the production of blood cells in bone marrow were also normal in all groups. With the above results, it is concluded that when the food additives (DHA, AF-2, BHT) were given together to the rats in several combinations even in less amount, they showed more toxic signs than the single doses.

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Biodistribution and Hepatic Metabolism of Galactosylated $^{111}In-Antibody-Chelator$ Conjugates: Comparison with $^{111}In-Antibody-Chelator$ Conjugates ($^{111}In$-표지 갈락토즈 접합 항체의 체내분포 및 간에서의 대사 : $^{111}In$-표지 항체와의 비교연구)

  • Kwak, Dong-Suk;Jeong, Kyu-Sik;Ha, Jeoung-Hee;Ahn, Byeong-Cheol;Lee, Kyu-Bo;Paik, Chang-H.;Lee, Jae-Tae
    • The Korean Journal of Nuclear Medicine
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    • v.37 no.6
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    • pp.402-417
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    • 2003
  • Purpose: To evaluate the use of monoclonal antibody (MoAb) as a carrier of the receptor-binding ligand the receptor mediated uptake into liver and subsequent metabolism of $^{111}In-labeled$ galactosylated MoAb-chelator conjugates were investigated and compared with those of $^{111}In$ labeled MoAb. Materials and Methods : T101 MoAb, $IgG_2$ against human lymphocytic leukemic cell, conjugated with cyclic DTPA dianhydride (DTPA) or 2-p-isothiocyanatobenzyl-6-methyl-DTPA (1B4M) was galactosylated with 2-imino-2-methoxyethyl-1-thio-${\beta}$-D-galactose and then radiolabeled with $^{111}In$. Biodistribution and metabolism study was peformed with two $^{111}In-conjugates$ in mice and rats. Results: $^{111}In-labeled$ T101 and its galactosylated conjugates were taken to the liver by the time, mostly within 10 min. However DTPA conjugate was retained longer in the liver than the 1B4M conjugate (55% vs 20% of injected dose at 44 hr). During this time, the radiornetabolite of DTPA conjugate was excreted similarly into urine (24%) and feces (17%). The radiometabolite of 1B4M was excreted primarily into feces (68%) rather than urine (8%). Size exclusion HPLC analysis of the bile and supernatant of liver homogenate showed two peaks the first (35%) with the retention time (Rt) identical to IgG and the second (65%) with Rt similar to free $^{111}In$ at 3 hr post-injection for the 1B4M conjugate, indicating that the metabolite is rapidly excreted through the biliary system. in contrast to DTPA conjugate, the small $^{111}In-DTPA-like$ metabolite was the major radioindium component (90%) in the liver homogenate as early as 3 hour post-injection, but the cumulative radioindium activity in feces was only 17% at 44 hour, indicating that the metabolite from DTPA conjugate does not clear readily through the biliary tract. Conclusion: The galactosylation of the MoAb conjugates resulted in higher hepatocyte uptake and enhanced metabolism, compared to those without galactosylation. Metabolism of the MoAb-conjugates is different between compounds radiolabled with different chelators due to different characteristics of radiometabolites generated in the liver.

A Study on $Na^+$ and Water Reabsorption in the Nephron Segment Beyond Proximal Tubule Measured by Lithium Clearance

  • Han, O-Soo;Goo, Yong-Sook;Sung, Ho-Kyung
    • The Korean Journal of Physiology
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    • v.25 no.2
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    • pp.189-200
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    • 1991
  • During the past few years it has been proposed that lithium clearance can be used as a reliable measure for the outflow of tubular fluid from the proximal tubule. This study was aimed to characterize the inflow dependent reabsorption of Na in renal tubule beyond the proximal tubule. For this purpose, lithium clearance was used as a measure for the inflow from the proximal tubule and the changes in reabsorption fraction of Na and water were determined in rabbits. Rabbits were pretreated with hypotonic saline solutions for an hour (50 mM/L NaCl, 20 ml/hr/kg). And then a hypertonic solution of 500 mM/L NaCl (20 ml/kg) was administered intraperitoneally in conjunction with a bolus of LiCl solution (2 mM/kg, i.v.) for conditioning the $C_{Li}$ and urine flow rate. To rule out the effect of $Li^+$ on tubular functions, a bolus of NaCl solution (2 mM/kg, i.v.) was administered. Fifteen, thirty, and sixty minutes after injection of hypertonic saline arterial blood and urine samples were taken. Urinary and plasma concentrations as well as urinary output of $Li^+,\;Na^+\;and\;K^+$ were measured. From these $C_{Li},\;C_{Na}$ and the reabsorption fraction of Na and water $(Fr_{Na}\;&\;FrH_2O)$ were calculated. These results were compared with those from control groups in which the same amount of isotonic saline (145 mM/L NaCl) and of 15% dextran solution were administered in the same way as that in experimental group. Followings are the results obtained. 1) The plasma concentration of $Na^+$ in rabbits injected with hypertonic saline reached the peak value after 15 min and thereafter no significant change was observed. Hematocrit values did not show any change, while urinary excretion of $Na^+$ increased markedly during the first 15 min and decreased thereafter. These results were not affected by an injection of a small amount of LiCl. 2) The clearances of $Li^+,\;Na^+\;and\;K^+$ in rabbits injected with hypertonic saline and LiCl solution decreased. 3) In spite of the variation in $C_{Li},\;Fr_{Na}$ did not show any significant change while $FrH_2O$ increased gradually. 4) $C_{Li}$ decreased also in rabbits received isotonic saline. $Fr_{Na}$ tended to be higher than that in hypertonic saline group, while $FrH_2O\;and\;Fr_{Na}$ did not associated with the decrease in $C_{Li}$. 5) $C_{Li}$ of the rabbits received dextran solution fluctuated persistently and $Fr_{Na}\;and\;FrH_2O$ did not change in along with $C_{Li}$ although $Fr_{Na}$ had a tendency to be higher than that in hypertonic saline group. 6) From the above results it was concluded that: (a) In rabbits with normal body store of $Na^+$, the $Fr_{Na}$ of renal tubule beyond proximal tubule. calculated from $C_{Li}$ as a measure of inflow from proximal tubule is constant in spite of variations in $C_{Li}$. (b) The $FrH_2O$ calculated from $C_{Li}$ is dependent largely upon ADH rather than inflow from proximal tubule. (c) When there is a decrease in plasma $Na^+$ concentration or ineffective body fluid. $Li^+$ reabsorption may occur in the thick segnent of Henle's loop and hence the determination of $Fr_{Na}$ and $FrH_2O$ will not be easy one, but $Fr_{Na}$ is constant under the same experimental conditions.

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Clinical Features, Molecular Analysis, and Outcome of ERT in Korean Patients with Mucopolysaccharidosis Type VI (국내 6형 뮤코다당증의 임상 양상, 분자유전학적 특징 및 효소치료의 효과에 대한 고찰)

  • Wichajarn, Khunton;Kim, Jinsup;Yang, Aram;Sohn, Young Bae;Lee, Beom Hee;Yoo, Han-Wook;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.24-33
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    • 2016
  • Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

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Pilot Research about Influential Factors and Efficacy Judgement of Acupoint Sticking in Dog-Days (삼복첩(三伏貼)의 영향 요인 및 임상 효과 판정에 관한 예비 연구)

  • Lee, Sun-Haeng;Kim, Cho-Young;Chang, Gyu-Tae
    • The Journal of Pediatrics of Korean Medicine
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    • v.25 no.1
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    • pp.72-81
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    • 2011
  • Backgrounds: Sticking warm and hot herbs to acupoint in Dog-Days where the strongest Yangqi takes place, Acupoint sticking in Dog-Days is one of Oriental medical treatment to cure winter diseases in the summer. This treatment is widespread in China and Taiwan, and is becoming popular in South Korea nowadays. Objectives: The research has been conducted to evaluate the influencial factors and efficacy in Acupoint sticking in Dog-Days. Methods: We visited one kindergarten in Dog-Days of 2010, and attached pills which are made of Sinapis Semen(白芥子), Corydalis Tuber(玄胡索), Asari Herba Cum Radix(細辛), Juice of Zingiber Officinale(薑汁) to BL-13(肺兪), BL-15(心兪), BL-17(膈兪) of 56 children for 4-6 hours(34 boys, 22 girls, $52.64{\pm}16.85$ months, 19-78 months). Exacerbating effect or non-significant changes in respiratory symptoms before and after the treatment were ified.. The influentialfactors of efficacy were analyzed by Pearson's $x^2$-test and Fisher's exact test. In addition, the efficacy and satisfaction among once, twice, and three times treatment groups were verified by ANOVA. Results: 27 children (48.2%) were effective, but efficacy felt by parents is 45 cases (80.4%). Sex, perspiration, stool, urine, sleep, cold of hands and feet, cold sensitivity, and frequency of Acupoint sticking in Dog-Days has no relation to efficacy(p>0.05). However, the efficacy is poor in 1 and 2 age(p=0.030). Difference among efficacy of once, twice, and three times treatment groups is not significant(p=0.069), whereas there are linear association in frequency of Acupoint sticking in Dog-Days and efficacy(p=0.030). 36 parents (64.3%) are satisfied with Acupoint sticking in Dog-Days, and we observed significant difference among once, twice, three times treatment groups(p=0.041). 19 parents (33.9%) had been known about Acupoint sticking in Dog-Days, but 53 parents (94.6%) wanted repetition, and 41 parents (73.2%) intended to recommend it to acquaintance. Side effects are minor itching in two cases. Twenty seven participants showed positive effect, and forty five people (80.4%) felt beneficial. Sex, perspiration, stool, urine, sleep, cold hands and feet, sensitivity in cold, and frequency of Acupoint sticking in Dog-Days has no relation to the efficacy(p>0.05). Though the efficacy was poor in one and two year old infants, it was linearly correlated with the frequency count and responses from the treatment (p=0.030). Thirty six participants (64.3%) satisfied with the treatment, and so did the first, second, and third participant groups (p=0.041). Even though, only nineteen participants (33.9%) were familiar with Acupoint sticking in Dog-Days, fifty three participants (94.6%) preferred to repeat the treatment, and 41 parents were preferable to recommend the treatment to others. Side effects of minor itching has been reported in a couple cases. Conclusions: Acupoint sticking in Dog-Days is effective in children older than three year old. The effect would be greater when going through the treatment three times. Based on significant satisfaction, intention of repetition and recommendation, strong promotion on Dog-Days are needed to make a better use of Acupoint sticking in Dog-Days for the effective treatment.

Influence of Intracerebroventricular Yohimbine on the Renal Function of the Rabbit (가토 신장기능에 미치는 측뇌실내 Yohimbine의 영향)

  • Kook, Young-Johng;Kim, Kyung-Keun;Kim, Sei-Jong
    • The Korean Journal of Pharmacology
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    • v.21 no.2
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    • pp.119-127
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    • 1985
  • The renal function is under regulatory influence of the central nervous system, mainly through activation of sympathetic nerve to the kidney, and it was recently reported that clonidine, an agonist to ${\alpha}_2$-adrenoceptors, induces diuresis and natriuresis when injected directly into a lateral ventricle of the rabbit brain (i.c.v.). This study was undertaken, therefore, to obtain further information as to the role of the central ${\alpha}_2$-adrenoceptors in regulating renal function, by observing the effects of i.c.v. yohimbine, a specific antagonist of adrenoceptors of ${\alpha}_2$-type, on the rabbit renal function, and to elucidate the mechanism involved in it. With 10 ${\mu}g/kg$ i.c.v. of yohimbine sodium excretion transiently increased along with increasing tendency of urine flow, renal plasma flow and glomerular filtration rate. These responses decreased with increasing doses. With 100 and 300 ${\mu}g/kg$ i.c.v. marked antidiuresis and antinatriuresis as well as profound decreases of renal perfusion and glomerular filtration were noted. Systemic blood pressure transiently increased. In reserpinized rabbits, 100 ${\mu}g/kg$ yohimbine i.c.v. did not produce any significant changes in urine flow, sodium excretion as well as in renal hemodynamics. The pressor response was also abolished. In preparations in which one kidney was denervated and the other left intact as control, i.c.v. yohimbine elicited typical antidiuretic antinatriuretic response in the innervated control kidney, whereas the denervated experimental kidney responded with marked diuresis and increases in excretory rates of sodium and potassium and in osmolar clearance in spite of absence of increased filtration and perfusion . Systemic blood pressure responded as in the normal rabbits. These observations indicate that i.c.v. yohimbine affects renal function in dual ways in opposite directions, the first being the antidiuretic antinatriuretic effects which results from decreased renal perfusion and glomerular filtration due to sympathetic activation and which is predominantly expressed in the normal rabbits, and the second less apparent effect being the diuretic and natriuretic action which is not mediated by nerve pathway but brought about by some humoral mechanism and which is effected by decreased sodium reabsorption in the tubules, possibly of the proximal portion.

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A Study on Dose Assessment by 18F-FDG injected into Patients (환자에게 주입된 18F-FDG 의한 선량 평가에 대한 연구)

  • Kim, Chang-Ju;Kim, Jang-Oh;Jeong, Geun-Woo;Shin, Ji-Hey;Lee, Ji-Eun;Jeon, Chan-Hee;Min, Byung-In
    • Journal of the Korean Society of Radiology
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    • v.14 no.4
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    • pp.467-475
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    • 2020
  • The purpose of this study is to assess doses to 18F-FDG, a radioactive drug, during PET examinations, to alleviate anxiety about radiation in patients and carers, to minimize the indiscriminate examination progress caused by medical institution personnel and space clearance problems, and health examination. The dose assessment was measured using a thermo-fluorescent dosimeter (TLD) and an electronic personal dosimeter (EPD) at the location of the cervical (hypothyroid), thorax (heart), and lower abdomen (breeding line) which are the three highest tissue areas of the radiation tissue weighting. In addition, spatial dose rates and radioactivity in urine were measured using GM counters and ion boxes. The results are as follows: First, the personal dosimeter TLD was measured 0.0425±0.0277 mSv in the cervical region, 0.0440±0.0386 mSv in the thorax and 0.0485±0.0436 mSv in the lower abdomen, with little difference in the heart dose depending on radiation sensitivity. The EPD was measured at 0.942±0.141 mSv/h immediately after the cervical position, and 0.192±0.031 mSv/h after 120 minutes. Immediately after the thorax position, 0.516±0.085 mSv/h, 120 minutes later 0.128±0.040 mSv/h. Immediately after the lower abdomen position, 0.468±0.091 mSv/h, and after 120 minutes 0.105±0.021 mSv/h were measured. The spatial dose rate at the GM counter was measured immediately at 0.041±0.005 mSv/h, 120 minutes later at 0.014±0.002 mSv/h. The radioactivity in urine using ion chamber was measured at 0.113±0.24 MBq/cc after 60 minutes and 0.063±0.13 MBq/cc after 120 minutes. As a result, 18F-FDG should be administered, dose re-evaluated two hours after the PET test is completed, and caregivers should be avoided. In addition, it is deemed necessary to provide patients and carers with sufficient explanations and expected values of exposure dose to avoid reckless testing. It is hoped that the data tested in this study will help patients and families relieve anxiety about radiation, and that the radiation workers' exposure management system and institutional improvements will contribute to the development of medical radiation.

Oral Health and Related Factors for the Elderly (Structural Equation Modeling을 통한 노인(老人)의 구강건강(口腔健康) 관련요인(關聯要因) 분석(分析))

  • Seung, Jeung-Hee
    • Journal of dental hygiene science
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    • v.4 no.3
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    • pp.91-95
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    • 2004
  • This study aims to analyze realities of oral health and related factors, and establish Structural Equation Modeling. The subjects of study were 9,340 elderly over age 65 who took the health examination(the first) for the local insured which National Health Insurance Corporation carried out in the survey area mentioned below from January 2002 to December 2002. The areas surveyed were 4 big cities including Seongbuk-ku, Seoul, 5 medium cities including Wonjusi, Gangwon-do, and 5 Counties including Yeong deok County, Kyeongbuk. Considering location and the scale of population, firstly, big unit areas(metropolitan city, province) were selected according to convenience, secondly, low unit areas(city, county, district) were selected randomly. The subjects were the elderly who took all tests including an oral examination and filled in the questionnaire. Major results from analysis are as follows: 1. Review of Composition Conception Validity As a result of analyzing composition conception validity of SEM including posture test, urine test, blood test, habits of eating, drinking and smoking, oral symptoms, and oral health status, using fit index such as GFI, CFI, TLI, and RMSEA, all were within fit range and composition conception validity was recognized. 2. As a result of analyzing SEM to find the relationship between each factor and oral health status, it was confirmed that all factors except urine test affected oral health status and the synthetic SEM to explain it could be established. In result, we could verify that the elderly of rural areas who had lesser experience of visiting a clinic and oral prophylaxis had a higher rate of caries, missing teeth, and denture need, and drinking and smoking negatively affected the rate of caries, periodontal, and missing teeth. Also, periodontal diseases were observed from 43.2% of the total elderly and much from the lower age. Most of oral disease can be prevented by right oral health behavior. Therefore through oral health professionals from each district public health center of the nation, oral health education for the elderly about right eating habits and oral health care should be carried out systematically and policy change to increase access to dental service is required lest that visiting a dental clinic should be impossible or oral health behaviors such as oral prophylaxis and denture wearing should be neglected by economic, geographical barriers. Also, to establish SEM to explain the relationship between oral health status and systemic health, more accurate test methods and effective index development should be preceded. Because items developed by National Health Insurance Corporation applied to this study without alteration, structuring a model had the uppermost limit. Continual study seems to be needed.

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A Case of Citrin Deficiency Presenting with Recurrent Hypoglycemia: Diagnosed by Targeted Exome Sequencing (반복적인 저혈당으로 엑솜 시퀀싱을 통해 31개월에 진단된 Citrin 결핍증 1례)

  • Kim, Chiwoo;Hwang, Jeongyun;Yang, Aram;Kim, Jinsup;Lee, Taeheon;Jang, Ja-Hyun;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.2
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    • pp.69-76
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    • 2017
  • Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

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