Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene, which is mapped to 5p13 and consists of 17 exons. A 12-month-old girl presented with severe ketoacidosis and was treated with continuous renal replacement therapy. She had two previously unrecognized mild-form episodes of ketoacidosis followed by febrile illness. While high levels of ketone bodies were found in her blood and urine, other laboratory investigations, including serum glucose, were unremarkable. We identified novel compound heterozygous mutations in OXCT1:c.1118T>G (p.Ile373Ser) and a large deletion ranging from exon 8 to 16 through targeted exome sequencing and microarray analysis. This is the first Korean case of SCOT deficiency caused by novel mutations in OXCT1, resulting in life-threatening ketoacidosis. In patients with unexplained episodic ketosis, or high anion gap metabolic acidosis in infancy, an inherited disorder in ketone body metabolism should be suspected.
Acid-Base Equilibrium ; Acidosis ; Blood Glucose ; Exome ; Exons ; Female ; Humans ; Infant ; Ketone Bodies ; Ketosis ; Metabolism ; Microarray Analysis ; Renal Replacement Therapy ; Transferases

BACKGROUND: We investigated the relationship between serum total carbon dioxide (CO₂) and bicarbonate ion (HCO₃⁻) concentrations in pre-dialysis chronic kidney disease (CKD) patients and devised a formula for predicting low bicarbonate (HCO₃⁻< 24 mmol/L) and high bicarbonate (HCO₃⁻ ≥ 24 mmol/L) using clinical parameters. METHODS: In total, 305 samples of venous blood collected from 207 pre-dialysis patients assessed by CKD stage (G1 + G2, 46; G3, 50; G4, 51; G5, 60) were investigated. The relationship between serum total CO₂ and HCO₃⁻ concentrations was analyzed using Pearson’s correlation coefficient. An approximation formula was developed using clinical parameters correlated independently with HCO₃⁻ concentration. Diagnostic accuracy of serum total CO₂ and the approximation formula was evaluated by receiver operating characteristic curve analysis and a 2 × 2 table. RESULTS: Serum total CO₂ correlated strongly with HCO₃⁻ concentration (r = 0.91; P < 0.001). The following approximation formula was obtained by a multiple linear regression analysis: HCO₃⁻ (mmol/L) = total CO₂ − 0.5 × albumin − 0.1 × chloride − 0.01 × (estimated glomerular filtration rate + blood glucose) + 15. The areas under the curves of serum total CO₂ and the approximation formula for detection of low bicarbonate and high bicarbonate were 0.981, 0.996, 0.993, and 1.000, respectively. This formula had superior diagnostic accuracy compared with that of serum total CO₂ (86.6% vs. 81.3%). CONCLUSION: Serum total CO₂ correlated strongly with HCO₃⁻ concentration in pre-dialysis CKD patients. An approximation formula including serum total CO₂ showed superior diagnostic accuracy for low and high bicarbonate compared with serum total CO₂.
Acid-Base Equilibrium ; Bicarbonates ; Carbon Dioxide ; Carbon ; Glomerular Filtration Rate ; Humans ; Linear Models ; Renal Insufficiency, Chronic ; ROC Curve

OBJECTIVE: Reliable biomarkers of delayed neuropsychological sequelae (DNS) after acute carbon monoxide (CO) poisoning are lacking. This study investigated the associations between potential serum markers and the development of DNS after acute CO poisoning. METHODS: Retrospective chart reviews were conducted for patients diagnosed with acute CO poisoning during a 28-month period. The patients were divided into two groups according to the presence or absence of having developed DNS. Multivariate analysis was performed to identify predictors of DNS after CO poisoning. RESULTS: Of a total of 102 patients, 10 (9.8%) developed DNS. The levels of serum osmolarity, S100B protein, and serum lactate, as well as serum anion gap, were statistically significant in univariate analysis. Multiple logistic regression analysis showed that anion gap (adjusted odds ratio [AOR], 1.36; 95% confidence interval [CI], 1.11 to 1.88), serum lactate level (AOR, 1.74; 95% CI, 1.26 to 2.75), and serum S100B protein level ([AOR, 7.02×10⁵; 95% CI, 4.56×10² to 9.00×10¹⁰] in model 1, [AOR, 3.69×10⁵; 95% CI, 2.49×10² to 2.71×10¹¹] in model 2) were independently associated with DNS development. CONCLUSION: Based on our preliminary results, serum lactate level, serum anion gap, and serum S100B protein level in the emergency department could be informative predictors of DNS development in patients with acute CO poisoning. These markers might have the potential to improve early recognition of DNS in patients with acute CO poisoning.
Acid-Base Equilibrium ; Biomarkers* ; Carbon Monoxide Poisoning* ; Carbon Monoxide* ; Carbon* ; Emergency Service, Hospital ; Humans ; Interleukin-6* ; Lactic Acid* ; Logistic Models ; Multivariate Analysis ; Neurotoxicity Syndromes ; Odds Ratio ; Osmolar Concentration* ; Poisoning ; Retrospective Studies

Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys. They had hypokalemia and normal anion gap metabolic acidosis due to distal renal tubular acidosis and positive anti-SS-A and anti-SS-B autoantibodies. Since one of them experienced femoral fracture due to osteomalacia secondary to renal tubular acidosis, an earlier diagnosis of pSS is important in preventing serious complications.
Acid-Base Equilibrium ; Acidosis ; Acidosis, Renal Tubular* ; Autoantibodies ; Diagnosis ; Exocrine Glands ; Fanconi Syndrome ; Female ; Femoral Fractures ; Glomerulonephritis ; Humans ; Hypokalemia ; Kidney ; Muscle Weakness ; Nephritis, Interstitial ; Osteomalacia ; Paralysis ; Saliva ; Tears

Elevated lactate levels are associated with acute illnesses, and the mortality is high. Here, we report a case of lactate-containing peritoneal dialysis (PD) solution inducing lactic acidosis corrected by changing to hemodialysis (HD). This 70-year-old female patient was treated with PD 8 months previously for end-stage renal disease caused by diabetes mellitus. She was admitted complaining of general weakness. Initial lactate level was 22.1 mg/dL and increased to 62.4 mg/dL showing high anion gap metabolic acidosis and compensatory hyperventilation. There are no definite causes of lactic acidosis besides the use of PD solutions containing a lactate component. The patient's lactate level was decreased after temporarily changing the dialysis modality to HD. Her lactate level was increased again after restarting PD, and decreased to normal after restarting HD. We report this case because physicians should consider lactate-containing PD solution as a possible cause of lactic acidosis.
Acid-Base Equilibrium ; Acidosis ; Acidosis, Lactic* ; Aged ; Diabetes Mellitus ; Dialysis ; Female ; Humans ; Hyperventilation ; Kidney Failure, Chronic ; Lactic Acid* ; Mortality ; Peritoneal Dialysis* ; Renal Dialysis*

Ethylene glycol is a widely used and readily available substance. Ethylene glycol ingestion does not cause direct toxicity; however, its metabolites are highly toxic and can be fatal even in trace amounts. Poisoning is best diagnosed through inquiry, but as an impaired state of consciousness is observed in most cases, poisoning must be suspected when a significantly elevated osmolar gap or high anion gap metabolic acidosis is found in blood tests. Hemodialysis and alcohol dehydrogenase inhibitors such as ethanol and fomepizole are a part of the basic treatment, and timely diagnosis and treatment are crucial because any delays can lead to death. However, there are few reported cases in Korea, and no report on the use of fomepizole. Herein, we report a case of acute renal failure caused by ethylene glycol poisoning that was treated with fomepizole and hemodialysis and present a literature review.
Acid-Base Equilibrium ; Acidosis ; Acute Kidney Injury* ; Alcohol Dehydrogenase ; Consciousness ; Diagnosis ; Eating ; Ethanol ; Ethylene Glycol* ; Hematologic Tests ; Korea ; Poisoning ; Renal Dialysis ; Renal Replacement Therapy*

To evaluate oxygenation and metabolic state of the non-brainstem stroke patients after the moderate intensity exercise using arterial blood gas analysis (ABGA). Fifty-two stroke patients were recruited. All the subjects were to follow the instructions for the exercise, not suffered cardiopulmonary diseases before, and not diagnosed with brainstem disorders. They were ordered to maintain 70% heart rate of maximal heart rate during exercise and checked blood pressure, pulse rate, respiratory rate (RR), and ABGA before and after the exercise, respectively. O² saturation, PaO², PaCO², O² content, HCO³⁻, pH, and anion gap were compared between the exercise, and those data changes were performed correlation analysis into age and the time after stroke onset. The data comparison was also done into the subgroup of the severity of stroke using National Institutes of Health Stroke Scale (NIHSS). The statistically significant results were observed in the change of O² saturation, PaO², PaCO², O² content, HCO3⁻, pH, and anion gap after the exercise. The decrease of HCO³⁻ and increase of RR were proportional to age, however the data showed no correlation with the NIHSS. These results suggest relatively preserved respiratory compensation mechanism and homeostatic effect to maintain metabolic balance among the non-brainstem stroke patients.
Acid-Base Equilibrium ; Bicycling ; Blood Gas Analysis ; Blood Pressure ; Brain Stem ; Compensation and Redress ; Heart Rate ; Humans ; Hydrogen-Ion Concentration ; National Institutes of Health (U.S.) ; Oxygen ; Oxygen Consumption ; Respiratory Rate ; Stroke*

A 32-year-old pregnant woman (34 + 5 weeks) was admitted with dizziness, nausea, and vomiting. Previously, she was diagnosed with gestational diabetes mellitus at 28 weeks with 100 g-OGTT and insulin therapy was started. Her average fasting glucose level was 97 mg/dL and postprandial 1-hour glucose level was 130 mg/dL with basal-bolus insulin therapy (total dose of 28-30 IU/day). At 34 + 0 weeks of gestational age, polyuria and unexpected weight loss (2 kg/week) with hyperglycemia occurred, and total dose of daily insulin requirement was increased up to 50 IU/day. At admission, her serum glucose level was high (502 mg/dL), and urinalysis revealed ketonuria +3. Arterial blood gas analysis revealed pH of 6.83, pCO2 of 9 mmHg, and bicarbonate of 2 mmol/L with an anion gap of 23.5 mmol/L. The diagnosis of diabetic ketoacidosis was established and emergency caesarean section was conducted due to fetal distress. She was finally diagnosed with fulminant type 1 diabetes mellitus, and multiple daily insulin injection therapy was continued after delivery.
Acid-Base Equilibrium ; Adult ; Blood Gas Analysis ; Blood Glucose ; Cesarean Section ; Diabetes Mellitus, Type 1 ; Diabetes, Gestational* ; Diabetic Ketoacidosis ; Diagnosis ; Dizziness ; Emergencies ; Fasting ; Female ; Fetal Distress ; Gestational Age ; Glucose ; Humans ; Hydrogen-Ion Concentration ; Hyperglycemia ; Insulin ; Ketosis ; Nausea ; Polyuria ; Pregnancy* ; Pregnant Women ; Urinalysis ; Vomiting ; Weight Loss

A characteristic imaging finding in cases of methanol intoxication is putaminal necrosis, but its presence is usually not suspected due to its rarity. Methanol intoxication generally produces serious neurological symptoms that include visual disturbances and diminished consciousness, characteristically with metabolic acidosis. We reported the case of a 59-year-old man who was admitted to the hospital with diminished consciousness. Acute methanol intoxication was determined as the cause. Laboratory tests revealed high anion gap metabolic acidosis. Diffusion-weighted MRI indicated diffuse symmetric diffusion restriction lesions in the subcortical white matter of both cerebral hemispheres.
Acid-Base Equilibrium ; Acidosis ; Brain Diseases* ; Cerebrum ; Consciousness ; Diffusion ; Humans ; Magnetic Resonance Imaging ; Methanol ; Middle Aged ; Necrosis ; White Matter

PURPOSE: The purpose of this study was to compare the effects of 21℃ CO₂ and 37℃ CO₂ pneumoperitoneum on body temperature, blood pressure, heart rate, and acid-base balance. METHODS: Data were collected at a 1300-bed university hospital in Incheon, from February through September 2012. A total of 74 patients who underwent laparoscopic colectomy under general anesthesia with desflurane were randomly allocated to either a control group or an experimental group. The control group received 21℃ CO₂ pneumoperitoneum; the experimental group received 37℃ CO₂ pneumoperitoneum. The pneumoperitoneum of the two groups was under abdominal pressure 15 mmHg. Body temperature, systolic blood pressure, heart rate and acid-base balance were assessed at 30 minutes and 90 minutes after pneumoperitoneum, and again at 30 minutes after arriving at the Post Anesthesia Care Unit. RESULTS: Body temperature in the 37℃ CO2 pneumoperitoneum group was significantly higher (F=9.43, p<.001) compared to the 21℃ CO₂ group. However, there were no statistically significant differences in systolic blood pressure (p=.895), heart rate (p=.340), pH (p=.231), PaCO₂ (p=.490) and HCO3- (p=.768) between the two groups. CONCLUSION: Pneumoperitoneum of 37℃ CO₂ is effective for the increase of body temperature compared to pneumoperitonium of 21℃ CO₂, and it does not result in a decrease of blood pressure, heart rate or acid-base imbalance.
Acid-Base Equilibrium* ; Acid-Base Imbalance ; Anesthesia ; Anesthesia, General ; Blood Pressure* ; Body Temperature Changes ; Body Temperature* ; Carbon Dioxide* ; Carbon* ; Colectomy ; Heart Rate* ; Heart* ; Hemodynamics ; Humans ; Hydrogen-Ion Concentration ; Incheon ; Laparoscopy ; Pneumoperitoneum*