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

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

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*

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*

Severe hypercapnia can be predicted by a decrease in cerebral electrical activity. The authors describe a sudden decrease in spectral entropy due to severe hypercapnia-induced respiratory acidosis in a patient with chronic pulmonary obstructive disease during lung resection. After two and a half hours of low tidal volume ventilation in the lateral position, the state entropy suddenly dropped from 45 to 7, without any changes in the effect-site concentration of propofol, end-tidal carbon dioxide (CO₂) tension, oxygen saturation, or arterial pressure. However, arterial blood gas analysis showed severe respiratory acidosis (pH 7.01, PaCO₂ 115 mmHg and PaO₂ 246 mmHg with FIO₂ of 0.5). Immediate hyperventilation improved the state entropy and acid-base balance. Electroencephalography-based spectral entropy can detect severe hypercapnia in chronic pulmonary obstructive disease patients with a large arterial to end-tidal CO2 difference due to prolonged hypoventilation during thoracic surgery.
Acid-Base Equilibrium ; Acidosis, Respiratory ; Arterial Pressure ; Blood Gas Analysis ; Carbon Dioxide ; Electroencephalography ; Entropy* ; Humans ; Hypercapnia* ; Hyperventilation ; Hypoventilation ; Lung ; Oxygen ; Propofol ; Thoracic Surgery ; Tidal Volume* ; Ventilation

Severe hypercapnia can be predicted by a decrease in cerebral electrical activity. The authors describe a sudden decrease in spectral entropy due to severe hypercapnia-induced respiratory acidosis in a patient with chronic pulmonary obstructive disease during lung resection. After two and a half hours of low tidal volume ventilation in the lateral position, the state entropy suddenly dropped from 45 to 7, without any changes in the effect-site concentration of propofol, end-tidal carbon dioxide (CO₂) tension, oxygen saturation, or arterial pressure. However, arterial blood gas analysis showed severe respiratory acidosis (pH 7.01, PaCO₂ 115 mmHg and PaO₂ 246 mmHg with FIO₂ of 0.5). Immediate hyperventilation improved the state entropy and acid-base balance. Electroencephalography-based spectral entropy can detect severe hypercapnia in chronic pulmonary obstructive disease patients with a large arterial to end-tidal CO2 difference due to prolonged hypoventilation during thoracic surgery.
Acid-Base Equilibrium ; Acidosis, Respiratory ; Arterial Pressure ; Blood Gas Analysis ; Carbon Dioxide ; Electroencephalography ; Entropy* ; Humans ; Hypercapnia* ; Hyperventilation ; Hypoventilation ; Lung ; Oxygen ; Propofol ; Thoracic Surgery ; Tidal Volume* ; Ventilation

Type B and non-A, non-B intercalated cells are found within the connecting tubule and the cortical collecting duct. Of these cell types, type B intercalated cells are known to mediate Cl⁻ absorption and HCO₃⁻ secretion largely through pendrin-dependent Cl⁻/HCO₃⁻ exchange. This exchange is stimulated by angiotensin II administration and is also stimulated in models of metabolic alkalosis, for instance after aldosterone or NaHCO₃ administration. In some rodent models, pendrin-mediated HCO₃⁻ secretion modulates acid-base balance. However, the role of pendrin in blood pressure regulation is likely of more physiological or clinical significance. Pendrin regulates blood pressure not only by mediating aldosterone-sensitive Cl⁻ absorption, but also by modulating the aldosterone response for epithelial Na⁺ channel (ENaC)-mediated Na⁺ absorption. Pendrin regulates ENaC through changes in open channel of probability, channel surface density, and channels subunit total protein abundance. Thus, aldosterone stimulates ENaC activity through both direct and indirect effects, the latter occurring through its stimulation of pendrin expression and function. Therefore, pendrin contributes to the aldosterone pressor response. Pendrin may also modulate blood pressure in part through its action in the adrenal medulla, where it modulates the release of catecholamines, or through an indirect effect on vascular contractile force. This review describes how aldosterone and angiotensin II-induced signaling regulate pendrin and the contributory role of pendrin in distal nephron function and blood pressure.
Absorption ; Acid-Base Equilibrium ; Adrenal Medulla ; Aldosterone ; Alkalosis ; Angiotensin II ; Angiotensins ; Blood Pressure* ; Catecholamines ; Epithelial Sodium Channels ; Negotiating ; Nephrons ; Rodentia