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1.
BMJ Open Diabetes Res Care ; 12(2)2024 Apr 17.
Article En | MEDLINE | ID: mdl-38631820

INTRODUCTION: Among youth with type 1 diabetes (T1D), longitudinal poor glycemic control is associated with adverse socioeconomic conditions at the neighborhood level. Child Opportunity Index (COI), which encompasses measures of education, health, environment, social, and economic factors, is associated with obesity in youth but has not been evaluated in youth with new-onset T1D or type 2 diabetes (T2D). We hypothesized that lower COI would be associated with adverse clinical outcomes at diabetes diagnosis, and due to differing risk factors and pathophysiology, that youth with new-onset T2D would have lower COI than youth with T1D. RESEARCH DESIGN AND METHODS: Retrospective cohort of youth with new-onset diabetes admitted to a large academic pediatric hospital. COI was compared by diabetes type using t-tests and Χ2 tests. Multivariable linear and logistic regression analyses were used to evaluate associations between COI and clinical characteristics, stratified by diabetes type and adjusted for age and sex. RESULTS: The cohort (n=484) differed in race and age by diabetes type (T1D: n=389; 10.0% black, 81.2% white; age 9.6±0.2 years; T2D: n=95; 44.2% black, 48.4% white; age 14.8±0.3 years). Youth with T2D had lower COI (p<0.001). Low COI was associated with diabetic ketoacidosis in T1D and T2D. Black youth with low COI had the highest hemoglobin A1c among youth with T2D and the highest obesity prevalence among youth with T1D. CONCLUSIONS: COI is associated with differing characteristics at diagnosis in youth-onset T1D and T2D but is worse among youth with T2D overall. These findings underscore the need to address socioeconomic adversity when designing interventions to reduce T2D risk and to improve outcomes at diabetes diagnosis in youth.


Diabetes Mellitus, Type 1 , Diabetes Mellitus, Type 2 , Child , Humans , Adolescent , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 2/epidemiology , Retrospective Studies , Risk Factors , Obesity/complications
2.
J Obes Metab Syndr ; 33(1): 11-19, 2024 Mar 30.
Article En | MEDLINE | ID: mdl-38193204

The prevalence of obesity in children and adolescents has been gradually increasing in recent years and has become a major health problem. Childhood obesity can readily progress to adult obesity. It is associated with obesity-related comorbidities, such as type 2 diabetes mellitus, hypertension, obstructive sleep apnea, non-alcoholic fatty liver disease, and the risk factor for cardiovascular disease. It is important to make an accurate assessment of overweight and obesity in children and adolescents with consideration of growth and development. Childhood obesity can then be prevented and treated using an appropriate treatment goal and safe and effective treatment strategies. This article summarizes the clinical practice guidelines for obesity in children and adolescents that are included in the 8th edition of the Clinical Practice Guidelines for Obesity of the Korean Society for the Study of Obesity.

3.
Ann Pediatr Endocrinol Metab ; 28(3): 168-177, 2023 Sep.
Article En | MEDLINE | ID: mdl-37798893

The Committee of Central Precocious Puberty of Korean Pediatrics and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based 2022 clinical practice guidelines for central precocious puberty in Korean children and adolescents. These guidelines provide the grade of recommendations, which includes both the strength of recommendations and the level of evidence. In the absence of sufficient evidence, recommendations are based on expert opinion. These guidelines have been revised and supplement the previous guidelines "Clinical Guidelines for Precocious Puberty 2011," and are drawn from a comprehensive review of the latest domestic and international research and the grade of recommendation appropriate to the domestic situation. This review summarizes the newly revised guidelines into 8 key questions and 27 recommendations and consists of 4 sections: screening, diagnosis, treatment, and long-term outcome of central precocious puberty.

4.
J Atten Disord ; 27(13): 1460-1466, 2023 11.
Article En | MEDLINE | ID: mdl-37449382

OBJECTIVE: The purpose of the current study was to examine the prevalence of attention deficit hyperactivity disorder (ADHD) in girls with central precocious puberty. METHOD: Girls with central precocious puberty were prospectively recruited from the pediatric clinic. Screening was done with ADHD Rating Scale (ADHD-RS) and Child Behavior Checklist (CBCL). Those who screened positive on ADHD-RS were referred for the diagnostic evaluation which included a Computerized Performance Test (CPT) and a clinical interview conducted by a child adolescent psychiatrist. RESULTS: Among the 81 girls (mean age = 8.97 ± 0.91) who completed the study, 11 girls (13.58%) were diagnosed with ADHD: 5 of them were inattentive type and 6 of them were combined type. CONCLUSION: The present exploratory study showed that the prevalence of ADHD in girls with central precocious was higher than the known worldwide prevalence of ADHD in children.


Attention Deficit Disorder with Hyperactivity , Puberty, Precocious , Child , Female , Adolescent , Humans , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/epidemiology , Prevalence , Puberty, Precocious/diagnosis , Puberty, Precocious/epidemiology , Cognition
5.
Medicine (Baltimore) ; 101(32): e29968, 2022 Aug 12.
Article En | MEDLINE | ID: mdl-35960084

Irritable bowel syndrome (IBS) is a common pediatric functional gastrointestinal disorder. It is characterized by recurrent abdominal pain and changes in bowel habits and is more prevalent in obese patients. We investigated the association between obesity and IBS in pediatric patients through fecal calprotectin testing. Patients under 18 years of age with IBS who underwent fecal calprotectin testing from January 2015 through April 2020 were retrospectively investigated. The patients were divided into groups based on body mass index (BMI): group I (BMI < 85th percentile) and group II (BMI ≥ 85th percentile). Group II was divided into group IIa, overweight (85th percentile ≤ BMI < 95th percentile), and group IIb, obese (BMI ≥ 95th percentile). Among 277 included patients, 202 (72.9%) were in group I, and 75 (27.1%) were in group II (mean calprotectin levels, 75.60 ± 103.48 vs 45.89 ± 66.57 µg/g, respectively; P = .006). There were significant differences in mean calprotectin levels between groups I and IIa (75.60 ± 103.48 vs 45.45 ± 63.38 µg/g, respectively; P = .028) and groups I and IIb (75.60 ± 103.48 vs 46.22 ± 69.59 µg/g, respectively; P = .025). There was a significant difference in mean calprotectin levels between groups I and II (85.69 ± 142.13 vs 32.04 ± 28.17 µg/g, respectively; P = .029) among patients between 6 and 12 years of age but not among adolescents aged between 12 and 18 years (P = .139). Fecal calprotectin was lower when moderate-to-severe fatty livers were observed by ultrasound compared with normal livers (68.52 ± 97.22 vs 18.53 ± 18.56 µg/g, respectively; P = .017). Fecal calprotectin levels were higher in normal-weight pediatric IBS patients than in their obese counterparts, and this difference was more prominent in younger patients. In young children, IBS symptoms are thought to be influenced more by factors other than intestinal inflammation.


Irritable Bowel Syndrome , Leukocyte L1 Antigen Complex , Adolescent , Body Mass Index , Child , Feces , Humans , Irritable Bowel Syndrome/complications , Irritable Bowel Syndrome/diagnosis , Obesity/complications , Retrospective Studies
6.
J Korean Med Sci ; 37(22): e176, 2022 Jun 06.
Article En | MEDLINE | ID: mdl-35668686

BACKGROUND: Hospital visitation has become challenging during the coronavirus disease 2019 pandemic because of quarantine measures and fear of infection. Consequently, newly diagnosed patients may present with more severe diseases during the pandemic. The present study analyzed the differences in the initial clinical presentations of newly diagnosed patients with type 1 diabetes (T1D) and type 2 diabetes (T2D), comparing pre-pandemic and pandemic periods. METHODS: Newly diagnosed patients with T1D or T2D and aged < 18 years during 2018-2020 were included in the study. Data were collected retrospectively from four academic centers in Gyeonggi-do, South Korea. Initial clinical data were compared between the pre-pandemic (2018-2019) and pandemic (2020) periods. RESULTS: In the pre-pandemic and pandemic periods, 99 patients (41 T1D and 58 T2D patients) and 84 patients (51 T1D and 33 T2D patients) were identified, respectively. During the pandemic, the proportion of diabetic ketoacidosis (DKA) cases increased compared to the pre-pandemic period (21.2% during 2018-2019 vs. 38.1% in 2020; P = 0.012). In the pre-pandemic and pandemic periods, initial pH was 7.32 ± 0.14 and 7.27 ± 0.15, respectively (P = 0.040), and HbA1c values were 11.18 ± 2.46% and 12.42 ± 2.87%, respectively (P = 0.002). During the pandemic, there was an increased risk of DKA in patients with T1D (odds ratio, 2.42; 95% confidence interval, 1.04-5.62; P = 0.040). CONCLUSION: During the pandemic, the proportion of DKA in newly diagnosed patients with T1D increased and clinical parameters showed a deteriorating pattern. Increased awareness of pediatric diabetes, especially DKA, could facilitate visit to the hospital for an early diagnosis; thus, reducing the number of DKA cases during the pandemic era.


COVID-19 , Diabetes Mellitus, Type 1 , Diabetes Mellitus, Type 2 , Diabetic Ketoacidosis , COVID-19/epidemiology , Child , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/epidemiology , Diabetic Ketoacidosis/diagnosis , Diabetic Ketoacidosis/epidemiology , Humans , Pandemics , Retrospective Studies
7.
Diabetes Metab J ; 46(2): 297-306, 2022 03.
Article En | MEDLINE | ID: mdl-34695908

BACKGROUND: Despite the importance of and social concern regarding prevention of diabetes at younger ages, limited data are available. This study sought to analyze changes in the prevalence of type 2 diabetes mellitus (T2DM) in Koreans younger than 30 years according to sex, age, and level of income. METHODS: The dataset analyzed in this study was derived from health insurance claims recorded in the National Health Insurance Service (NHIS) database. Participants' level of income was categorized as low (quintile 1, <20% of insurance premium) or others (quintile 2-5). RESULTS: In males and females, the prevalence of T2DM per 10,000 people steadily increased from 2.57 in 2002 to 11.41 in 2016, and from 1.96 in 2002 to 8.63 in 2016. The prevalence of T2DM in girls was higher in the age group of 5 to 14 years. Even though the prevalence was higher among those older than 20 years, the increase had started earlier, in the early 2000s, in younger age group. Adolescents aged 10 to 19 years in low-income families showed a remarkable increase in prevalence of T2DM, especially in boys. CONCLUSION: The prevalence of T2DM in young Koreans increased more than 4.4-fold from 2002 to 2016, and the increase started in the early 2000s in younger age groups and in low-income families. This is the first study to examine the trend in prevalence of T2DM in children, adolescents, and young adults in Korea. Future studies and collaborations with social support systems to prevent T2DM at an early age group should be performed.


Diabetes Mellitus, Type 2 , Adolescent , Adult , Asian People , Child , Child, Preschool , Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/prevention & control , Female , Humans , Insurance, Health , Male , Prevalence , Republic of Korea/epidemiology , Young Adult
8.
9.
Children (Basel) ; 8(5)2021 May 17.
Article En | MEDLINE | ID: mdl-34067734

BACKGROUND: Children experience seasonal variations in growth whereby height increases most in spring and least in autumn, and weight increases least in spring and most in autumn. We hypothesized that activity restriction caused by efforts to contain the spread of coronavirus disease 2019 (COVID-19) would result in increased body mass index (BMI) in children, differing from conventional seasonal growth variations. METHODS: We included 169 children who visited endocrine clinics of three hospitals in Korea at regular intervals under the same conditions for two years. Visit dates were D1 (January, 2019), D2 (July, 2019), D3 (January, 2020) before the COVID-19 outbreak, and D4 (July, 2020) during the pandemic. Differences in the z-score for height (HT), weight (WT), and BMI among time points and between spring seasons (i.e., S1-S3) were compared. RESULTS: There were significant differences in BMIz among time points, which decreased from D1-D2 and increased from D2-D3 and D3-D4. WTz significantly increased from D2-D3 and D3-D4. BMIz values of S1 (spring 2019) and S3 (spring 2020) were -0.05 and 0.16, respectively, showing significant differences. WTz values between S1 and S3 were significantly different (-0.02 vs. 0.13). CONCLUSIONS: In 2019, there were conventional seasonal variations in BMIz, which declined in spring and increased in autumn, while in 2020, BMIz increased even in spring. The COVID-19 pandemic may have affected seasonal variations in the growth of children attending endocrine clinics.

10.
J Obes Metab Syndr ; 30(2): 124-131, 2021 Jun 30.
Article En | MEDLINE | ID: mdl-34053939

Both small for gestational age and large for gestational age (LGA) size at birth are associated with metabolic complications throughout life. The long-term consequences of LGA have been investigated in only a few studies. LGA is thought to be associated with early obesity and metabolic risk. Understanding how LGA can influence later obesity risk is important for pediatric obesity interventions. Pregnant women who are overweight or obese are at high risk of having LGA babies. Infants born LGA are at increased risk of becoming overweight or obese children, adolescents, and young adults and can have an increased risk of metabolic syndrome later in life and giving birth to LGA offspring. Education and intervention for weight control before and during pregnancy should be conducted to prevent LGA births. Particular attention is needed for women of childbearing age who are diabetic and obese, which could be the starting point for lifelong management of obesity.

11.
J Obes Metab Syndr ; 30(2): 81-92, 2021 Jun 30.
Article En | MEDLINE | ID: mdl-34045368

Obesity is a prevalent and complex disease. The prevalence of obesity in Korea increased from 29.7% in 2010 to 35.7% in 2018, with the prevalence of abdominal obesity being 23.8% in 2018. Obesity contributes to medical costs and socioeconomic burden due to associated comorbidities. The treatment and management of obesity is changing based on new clinical evidence. The 2020 Korean Society for the Study of Obesity Guideline for the Management of Obesity in Korea summarizes evidence-based recommendations and treatment guidelines.

12.
J Clin Res Pediatr Endocrinol ; 13(1): 104-108, 2021 02 26.
Article En | MEDLINE | ID: mdl-32349463

Fibroma of tendon sheath (FTS) is an uncommon mass that arises from the tendon sheath of extremities. The tumor typically affects adults between ages 20 and 50 years with a predominance in males. To date, growth hormone (GH) treatment is safe for children with Turner syndrome without risk factors and is accepted worldwide. This article reports the case of a nine-year-old female patient with Turner syndrome and FTS during GH treatment. She had been treated with daily subcutaneous GH to improve growth failure with a mean dose of 0.28 mg/kg/week and the level of insulin-like growth factor-1 was within the normal range. During the follow-up period, she complained about a mass in her hand, subsequently diagnosed as FTS. This report illustrates the clinical impact of Turner syndrome and GH treatments on the occurrence of this tumor through literature reviews. Further studies are needed to highlight the association between FTS and GH treatment, especially in Turner syndrome.


Fibroma/chemically induced , Growth Hormone/adverse effects , Hand/pathology , Tendons/pathology , Turner Syndrome/drug therapy , Child , Female , Growth Hormone/administration & dosage , Humans
13.
Children (Basel) ; 7(11)2020 Nov 08.
Article En | MEDLINE | ID: mdl-33171583

Precocious puberty, resulting in various physical, mental, and social changes, may have negative consequences for children and their families. In this study, we investigated whether there were differences between parental obesity, children's and parent's awareness of body shape, and dietary habits according to obesity levels in children with precocious puberty. A total of 193 children (93.3% girls) diagnosed with precocious puberty were classified into three groups according to their obesity levels. Negative body shape awareness and dissatisfaction were significantly higher in the obese group than in the normal-weight group, and parents were more likely to perceive their children as fat than the children themselves. In addition, the obesity rate of parents in the obese group was higher, and the body mass indexes of children and parents were significantly correlated. The nutrition quotients (NQs) were revealed to be significantly lower in the obese group with significantly lower scores. The significant factors related to obesity were the awareness of a fatty body image and dissatisfaction, obesity of the parents, and the NQ. The results show that obese children with precocious puberty were more vulnerable to negative lifestyle, family environment, and self-esteem effects than their normal-weight peers. Therefore, various interventions, such as environmental management, psychological support, and nutrition education, are needed that focus on the obesity and health conditions of children with precocious puberty.

14.
J Obes Metab Syndr ; 29(2): 99-109, 2020 Jun 30.
Article En | MEDLINE | ID: mdl-32378399

Obesity is a serious and growing worldwide health challenge associated with type 2 diabetes mellitus, cardiovascular disease, osteoarthritis, some cancers, sleep apnea, asthma, and nonalcoholic fatty liver. The Korean Society for the Study of Obesity recommends that pharmacotherapy should be considered when intensive lifestyle modifications fail to achieve a weight reduction in obese patients with a body mass index ≥25 kg/m2. Long-term medications for obesity have traditionally fallen into two major categories: centrally acting anorexiant medications and peripherally acting medications, such as orlistat. In this paper, we provide an overview of the anti-obesity medications currently available for the long-term and individualized treatment of obesity.

15.
Diabetes Metab J ; 42(6): 480-487, 2018 Dec.
Article En | MEDLINE | ID: mdl-30113142

BACKGROUND: This study aimed to evaluate the relationship between the frequency of self-monitoring of blood glucose (SMBG) and glycosylated hemoglobin (HbA1c) levels among Korean adolescents with type 1 diabetes mellitus (T1DM). Factors affecting the SMBG frequency were analyzed in order to improve their glycemic control. METHODS: Sixty-one adolescents aged 13 to 18 years with T1DM were included from one tertiary center. Clinical and biochemical variables were recorded. Factors associated with SMBG frequency were assessed using structured self-reported questionnaires. RESULTS: Average total daily SMBG frequency was 3.8±2.1 and frequency during the school day was 1.3±1.2. The mean HbA1c level was 8.6%±1.4%. As the daily SMBG frequency increased, HbA1c levels declined (P=0.001). The adjusted odds of achieving the target HbA1c in participants who performed daily SMBG ≥5 significantly increased 9.87 folds (95% confidence interval [CI], 1.58 to 61.70) compared with those performed SMBG four times a day. In the subjects whose SMBG frequency <1/day during the school day, an 80% reduction in the adjusted odds ratio 0.2 (95% CI, 0.05 to 0.86) showed compared to the group with performing two SMBG measurements in the school setting. The number of SMBG testing performed at school was significantly high for individuals assisted by their friends (P=0.031) and for those who did SMBG in the classrooms (P=0.039). CONCLUSION: Higher SMBG frequency was significantly associated with lower HbA1c in Korean adolescents with T1DM. It would be necessary to establish the school environments that can facilitate adequate glycemic control, including frequent SMBG.

16.
Ann Pediatr Endocrinol Metab ; 23(1): 4-8, 2018 Mar.
Article En | MEDLINE | ID: mdl-29609443

Infant born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature and metabolic alterations in later life. The result of SGA followed by rapid weight gain during early postnatal life has been associated with increased long-term risks for central obesity, insulin resistance, impaired glucose tolerance, type 2 diabetes, hypertension, increased fat mass, and cardiovascular disease. We should carefully monitor their weight during infancy and childhood to prevent excessive rates of weight gain. 'Healthy catch up growth' may decreased the risk of obesity-related comorbidities in SGA. Establishing the optimal growth patterns in SGA to minimize short- and long-term risks is important, and further studies will be needed. This review discusses recent studies concentrating on obesity-related morbidities in SGA infants that may provide insight into growth monitoring.

17.
Medicine (Baltimore) ; 96(29): e7387, 2017 Jul.
Article En | MEDLINE | ID: mdl-28723748

Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males. Each diagnosis was based on an enzyme assay and GLA gene mutation analysis.The mean age at presentation was 24 years (range, 5-65 years); however, the diagnoses were delayed by 21 ±â€Š19 years after the onset of symptoms. Those patients with late-onset Fabry disease were diagnosed by family screening or milder symptoms at a later age. Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females underwent ERT for 4.2 ±â€Š3.6 years.This study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.


Fabry Disease/epidemiology , Fabry Disease/genetics , Mutation , alpha-Galactosidase/genetics , Adolescent , Age of Onset , Aged , Child , Child, Preschool , Diagnostic Errors , Enzyme Replacement Therapy , Fabry Disease/diagnosis , Fabry Disease/drug therapy , Female , Genetic Association Studies , Humans , Incidence , Infant, Newborn , Male , Middle Aged , Neonatal Screening , Phenotype , Republic of Korea/epidemiology , Surveys and Questionnaires , Treatment Outcome , Young Adult
19.
Asian Pac J Trop Med ; 10(1): 69-74, 2017 Jan.
Article En | MEDLINE | ID: mdl-28107869

OBJECTIVE: To identify the source of infection and determine the clinical features and laboratory finding of measles infection. METHODS: In 27 measles patients, except for 3 adult patients, the rest of 24 pediatric measles cases were analyzed with regard to age, sex, immunization status, transmission routes and molecular genotyping of measles virus. Eighteen measles patients who admitted in isolation ward were set apart to investigate clinical findings and its correlation with laboratory characteristics. Retrospective analysis of cases was conducted in this study. RESULTS: Of the 24 pediatric patients, 23 (95.8%) had not received any measles-containing vaccine (MCV). Sixteen of the patients (66.7%) were aged <12 months. The suspicious index case of a girl aged 34 months was not vaccinated with MCV1 and got measles after a trip to Philippines, and molecular genotype was revealed as B3. Measles outbreaks in the community such as a restaurant were followed by this one imported case. According to analysis of 18 patients admitted in isolation ward, the median level of C-reactive protein (CRP) was 0.38 mg/dL and that of lactate dehydrogenase (LDH) was 1200 IU/L. All of the 18 patients had LDH levels above the normal range. Age correlated with CRP (ρ = 0.528, P = 0.024) and LDH (ρ = 0.501, P = 0.034). The duration of fever was correlated with the duration of fever before rash (ρ = 0.898, P < 0.01). The duration of hospitalization was correlated with CRP (ρ = 0.586, P = 0.011). The white blood cell counts were correlated with the levels of LDH (ρ = 0.505, P = 0.033), aspartate aminotransferase (ρ = 0.507, P = 0.032), and alanine aminotransferase (ρ = 0.481, P = 0.043). CONCLUSIONS: Early weaning of maternally derived measles antibodies therefore vaccination of MCV1 at a young age from 9 months to 12 months should be considered in situations of early exposure. Furthermore, there is a call for consideration of scheduling an earlier age for the first dose of MMR vaccine in Europe. It is necessary for Korea to investigate the duration of the presence and quantitative analysis of maternal measles antibodies in infants and to reconsider the timing of MCV1.

20.
Korean J Pediatr ; 57(7): 329-32, 2014 Jul.
Article En | MEDLINE | ID: mdl-25114694

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.

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