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    1 OF 164

    Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.
    Transl Sci Rare Dis 2018 Apr 13;3(1):45-48. Epub 2018 Apr 13.
    Children's National Health System, Rare Disease Institute, Genetics and Metabolism, Washington, DC, USA.
    Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis, with evidence of both chorioamnionitis and cardiogenic shock. Initial metabolic labs demonstrated a severe lactic acidosis prompting genetic testing which revealed a homozygous pathogenic variant for Sengers syndrome in c. Read More

    A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.
    Am J Med Genet A 2018 May;176(5):1232-1237
    Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
    Animal studies have demonstrated the critical roles of the patatin-like protein family plays in cellular growth, lipid homeostasis, and second messenger signaling the nervous system. Of the nine known calcium-independent phospholipase A2γ, only PNPLA2, PNLPA6, PNPLA9 and most recently a single patient with PNPLA8 are associated with mitochondrial-related neurodegeneration. Using whole exome sequencing, we report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss-of-function variants in PNPLA8. Read More

    LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
    Am J Med Genet A 2018 May;176(5):1184-1189
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Lipoic acid is an essential cofactor for the mitochondrial 2-ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe lactic acidosis resulting in neonatal death and/or poor neurocognitive outcomes. Read More

    Inflammatory mechanism of Rumenitis in dairy cows with subacute ruminal acidosis.
    BMC Vet Res 2018 Apr 19;14(1):135. Epub 2018 Apr 19.
    Key Laboratory of Zoonosis, Ministry of Education, College of Veterinary Medicine, Jilin University, 5333 Xi'an Road, Changchun, Jilin, 130062, China.
    Background: Subacute ruminal acidosis (SARA) is a metabolic disease in high-producing dairy cattle, and is accompanied by rumenitis. However, the mechanism of rumenitis remains unclear. Therefore, the aim of this study was to investigate the molecular mechanism of rumenitis in dairy cows with SARA. Read More

    Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial.
    J Neurol Neurosurg Psychiatry 2018 Apr 17. Epub 2018 Apr 17.
    Department of Neurology, Kawasaki Medical School, Kurashiki, Japan.
    Objective: The aim of this study was to evaluate the efficacy and safety of high-dose taurine supplementation for prevention of stroke-like episodes of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), a rare genetic disorder caused by point mutations in the mitochondrial DNA that lead to a taurine modification defect at the first anticodon nucleotide of mitochondrial tRNA, resulting in failure to decode codons accurately.

    Methods: After the nationwide survey of MELAS, we conducted a multicentre, open-label, phase III trial in which 10 patients with recurrent stroke-like episodes received high-dose taurine (9 g or 12 g per day) for 52 weeks. The primary endpoint was the complete prevention of stroke-like episodes during the evaluation period. Read More

    Acute Lymphoblastic Leukemia Presenting with Liver Infiltration and Severe Lactic Acidosis.
    Am J Case Rep 2018 Apr 17;19:453-457. Epub 2018 Apr 17.
    Department of Medicine, Division of Hematology/Oncology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
    BACKGROUND Type-B lactic acidosis is a rare complication of solid tumors and hematological malignancies. It occurs secondary to Warburg effect, when glucose metabolism in cancer cells switches from the oxidative pathway to the glycolytic pathway. Malignant lactic acidosis is a life-threatening condition if not promptly diagnosed and treated urgently. Read More

    Pyruvate in reduced osmolarity oral rehydration salt corrected lactic acidosis in sever scald rats.
    J Surg Res 2018 Jun 22;226:173-180. Epub 2018 Feb 22.
    Shanghai Sandai Pharmaceutical R&D Co, Ltd, Pudong, Shanghai, China. Electronic address:
    Background: A novel pyruvate-based oral rehydration salt (Pyr-ORS) was demonstrated of superiority over bicarbonate- or citrate-based one to preserve organ function and correct lactic acidosis in rehydration of lethal shock in animals. This study further compared these effects between low-osmolar Pyr-ORS and equimolar citrate-based counterpart.

    Methods: Eighty rats, using a fatal burn shock model, were randomized into four groups (two subgroups per group: n = 10): the sham group (group SR), Pyr-ORS group (group PR), WHO-ORS III group (group CR), and no rehydration group. Read More

    Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.
    JIMD Rep 2018 Apr 14. Epub 2018 Apr 14.
    NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
    Background: Mutations in SLC25A4 (syn. ANT1, Adenine nucleotide translocase, type 1) are known to cause either autosomal dominant progressive external ophthalmoplegia (adPEO) or recessive mitochondrial myopathy, hypertrophic cardiomyopathy, and lactic acidosis.

    Methods And Results: Whole exome sequencing in a young man with myopathy, subsarcolemmal mitochondrial aggregations, cardiomyopathy, lactic acidosis, and L-2-hydroxyglutaric aciduria (L-2-HGA) revealed a new homozygous mutation in SLC25A4 [c. Read More

    On the Efficacy of Cardio-Pulmonary Resuscitation and Epinephrine Following Cyanide- and HS Intoxication-Induced Cardiac Asystole.
    Cardiovasc Toxicol 2018 Apr 11. Epub 2018 Apr 11.
    Division of Pulmonary and Critical Care Medicine, Department of Medicine, College of Medicine, Pennsylvania State University, 500 University Drive, H041, Hershey, PA, 17033, USA.
    This study was aimed at determining the efficacy of epinephrine, followed by chest compressions, in producing a return of spontaneous circulation (ROSC) during cyanide (CN)- or hydrogen sulfide (HS)-induced toxic cardiac pulseless electrical activity (PEA) in the rat. Thirty-nine anesthetized rats were exposed to either intravenous KCN (n = 27) or HS solutions (n = 12), at a rate that led to a PEA within less than 10 min. In the group intoxicated by CN, 20 rats were mechanically ventilated and received either epinephrine (0. Read More

    Metformin-Induced Lactic Acidosis: A Case Study.
    Cureus 2018 Feb 4;10(2):e2152. Epub 2018 Feb 4.
    Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine.
    Metformin is the first line management for patients with Type 2 diabetes mellitus. Metformin-induced lactic acidosis (MALA) is a severe side effect of metformin in high doses. However, there have not been many reported cases of MALA. Read More

    Population Pharmacokinetics of Intravenous Linezolid in Premature Infants.
    Pediatr Infect Dis J 2018 Apr 9. Epub 2018 Apr 9.
    Department of Pediatrics, CHU Sainte-Justine, Montreal, Canada.
    Background: The emergence of coagulase-negative staphylococci (CoNS) with reduced vancomycin-susceptibility in some neonatal intensive care units (NICU) has resulted in an increase of linezolid use. Linezolid pharmacokinetics (PK) and safety in premature infants still need to be better established.

    Methods: This was a retrospective PK study. Read More

    Linezolid-Induced Lactic Acidosis Sets Stage for Surgery to Rule Out Mesenteric Ischemia: A Case Report.
    A A Pract 2018 Mar 8. Epub 2018 Mar 8.
    From the Department of Anesthesia, Critical Care, and Pain Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
    An 81-year-old woman with extensive peripheral vascular and coronary artery disease was admitted to the intensive care unit with a deep heel abscess and urinary tract infection. When cultures from the heel ulcer yielded vancomycin-resistant enterococci, she was started on the antibiotic linezolid. After several days of intravenous linezolid therapy, she developed severe lactic acidosis (pH 6. Read More

    [Treatment with metformin in type 2 diabetes mellitus - new routines when renal function is reduced and in connection with administration of iodine contrast media].
    Lakartidningen 2018 Apr 3;115. Epub 2018 Apr 3.
    Dept of Endocrinology - Malmö, Sweden Dept of Endocrinology - Malmö, Sweden.
    Metformin is eliminated through glomerular filtration and tubular secretion in the kidneys. New guidelines recommend use of metformin down to a GFR of 30 mL/min under the condition that the dose is adjusted. As the risk of inducing lactic acidosis is very low in connection with administration of iodine contrast media, new recommendations in Sweden say that metformin must be stopped only when GFR is below 45 mL/min. Read More

    Effects and Mechanisms of Taurine as a Therapeutic Agent.
    Biomol Ther (Seoul) 2018 Apr 10. Epub 2018 Apr 10.
    Department of Life Science, University of Seoul, Seoul 02504, Republic of Korea.
    Taurine is an abundant, β-amino acid with diverse cytoprotective activity. In some species, taurine is an essential nutrient but in man it is considered a semi-essential nutrient, although cells lacking taurine show major pathology. These findings have spurred interest in the potential use of taurine as a therapeutic agent. Read More

    Case report: lactic acidosis and rhabdomyolysis during telbivudine and tenofovir treatment for chronic hepatitis B.
    BMC Gastroenterol 2018 Apr 6;18(1):45. Epub 2018 Apr 6.
    Department of Infectious Diseases, Huashan Hospital Affiliated to Fudan University, 12, Middle Wulumuqi Road, Shanghai, 200040, China.
    Background: Current treatment options for chronic hepatitis B (CHB) are pegylated interferon alpha and nucleoside analogues (NAs). NAs have relatively fewer side effects than interferon alpha, and generally well tolerated. Previously 12. Read More

    Metformin associated lactic acidosis: a case series of 28 patients treated with sustained low-efficiency dialysis (SLED) and long-term follow-up.
    BMC Nephrol 2018 Apr 2;19(1):77. Epub 2018 Apr 2.
    Division of Nephrology and Dialysis, Azienda Ospedaliera G. Brotzu, Piazzale Ricchi n°1, 09134, Cagliari, Italy.
    Background: Metformin associated lactic acidosis (MALA) is a well-known serious side effect of biguanides. However, the best treatment strategy remains a matter of debate. In the last 14 years, we observed a significant increase in hospitalizations for MALA to our Center. Read More

    Rapid review shows that probiotics and fermented infant formulas do not cause d-lactic acidosis in healthy children.
    Acta Paediatr 2018 Mar 30. Epub 2018 Mar 30.
    Department of Paediatrics, The Medical University of Warsaw, Warsaw, Poland.
    Aim: Extensive ongoing research on probiotics and infant formulas raises a number of safety questions. One concern is the potential influence of d-lactic acid-containing preparations on the health of infants and children. The aim of this review was to summarise the available knowledge on the ingestion of d-lactic acid-producing bacteria, acidified infant formulas and fermented infant formulas as a potential cause of paediatric d-lactic acidosis. Read More

    Extra-Renal Indications for Continuous Renal Replacement Therapy.
    Contrib Nephrol 2018 29;194:90-98. Epub 2018 Mar 29.
    Continuous renal replacement therapy (CRRT) has many potential indications that extend beyond the traditional removal of uremic waste products. Many of these stem from the capacity of CRRT to remove middle-sized molecules and its suitability for haemodynamically unstable patients. Using CRRT for immunomodulation to remove circulating plasma cytokines has created great enthusiasm and, in the past, immunomodulation was a frequently reported indication for commencing CRRT. Read More

    Treatment of Depression With Duloxetine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.
    Clin Neuropharmacol 2018 Mar 28. Epub 2018 Mar 28.
    The mitochondrial cytopathies are a heterogeneous group of diseases characterized by heteroplasmic maternal transmission and selective dysfunction of tissues and organs highly dependent on aerobic respiration (eg, skeletal muscle, cardiac muscle, and brain). Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a specific subtype of mitochondrial cytopathy that is commonly associated with mood disturbances in individuals who survive until adulthood. Because of the altered cellular metabolism inherent in MELAS, it is often difficult to determine drug dosing, drug choice, and treatment response in patients with this rare disease. Read More

    Endocrine Disorders in Primary Mitochondrial Disease.
    J Endocr Soc 2018 Apr 19;2(4):361-373. Epub 2018 Feb 19.
    North American Mitochondrial Disease Consortium, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Context: Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed.

    Objective: To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Read More

    A Case of Polymicrobial Bacteremia in a Patient Undergoing Chemotherapy.
    Case Rep Infect Dis 2018 15;2018:4165960. Epub 2018 Jan 15.
    Department of Respiratory Medicine, Tokyo Dental College Ichikawa General Hospital, 5-11-13 Sugano, Ichikawa, Chiba 272-0824, Japan.
    We report an aggressive case of polymicrobial bacteremia in a patient with renal pelvis carcinoma. A 76-year-old man developed watery diarrhea after undergoing chemotherapy. He became unconscious and went into shock. Read More

    Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
    Metab Brain Dis 2018 Mar 25. Epub 2018 Mar 25.
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
    We report the prenatal findings of severe cerebellar growth arrest in two siblings with POLG1 mutations. The first presented with seizures and lactic acidosis immediately after premature birth and was diagnosed with mitochondrial disease on muscle biopsy. Molecular DNA analysis confirmed homozygous missense mutation in the POLG1 gene. Read More

    Range of therapeutic metformin concentrations in clinical blood samples and comparison to a forensic case with death due to lactic acidosis.
    Forensic Sci Int 2018 May 12;286:106-112. Epub 2018 Mar 12.
    Herz- und Diabeteszentrum NRW, Ruhr-Universitaet Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
    Due to a lack of reference values for blood concentration of metformin in the literature, the forensic evaluation of metformin findings in blood samples is difficult. Interpretations with regard to the assessment of blood concentrations as well as an estimation of the ingested metformin amounts are often vague. Furthermore, post mortem evaluation of death due to lactic acidosis because of metformin is difficult since renal performance or lactate concentrations can not always reliably be determined after death. Read More

    Stoned-A Syndrome of D-Lactic Acidosis and Urolithiasis.
    Nutr Clin Pract 2018 Mar 23. Epub 2018 Mar 23.
    Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
    Short bowel syndrome (SBS) can lead to many complications related to the condition and its therapy. We describe 2 children with SBS who we believe are the second and third patients documented to have experienced both D-lactic acidosis and urolithiasis. We review aspects of these SBS complications and recent findings on the microbiome of patients with SBS that may predispose to these complications. Read More

    A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.
    J Inherit Metab Dis 2018 Mar 20. Epub 2018 Mar 20.
    Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.
    Primary CoQ deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis of coenzyme Q (CoQ). To date, mutations in nine proteins required for the biosynthesis of CoQ cause CoQ deficiency with varying clinical presentations. In 2009 the first patient with mutations in COQ9 was reported in an infant with a neonatal-onset, primary CoQ deficiency with multi-system disease. Read More

    Successfully treated necrotizing fasciitis using extracorporeal life support combined with hemoadsorption device and continuous renal replacement therapy.
    Int J Artif Organs 2018 Mar 20;41(3):178-182. Epub 2018 Feb 20.
    1 Cardiac Surgery Unit, University Hospital of Angers, Angers, France.
    Introduction: Necrotizing fasciitis represents a life-threatening infectious condition that causes spreading necrotisis of superficial fascia and subcutaneous cellular tissues. We describe the case of a patient diagnosed with septic and toxic shocks leading to multiple organ failure successfully treated with a combination of extracorporeal life support, continuous renal replacement therapy, and a hemoadsorption device.

    Methods: A 41-year-old patient presented with necrotizing fasciitis and multi-organ failure. Read More

    Determinants of Lactic Acidosis in Acute Cyanide Poisonings.
    Crit Care Med 2018 Mar 14. Epub 2018 Mar 14.
    Adult Intensive Care Unit, Department of anesthesiology and intensive care and SAMU 75, CHU Necker-Enfants Malades.
    Objectives: To investigate the magnitude of lactic acidosis in response to cyanide poisoning compared with the secondary response caused by cardiovascular shock.

    Design: Retrospective case-control observational study.

    Setting: University Hospital of Assistance Publique - Hôpitaux de Paris. Read More

    Translational Application of Measuring Mitochondrial Functions in Blood Cells Obtained from Patients with Acute Poisoning.
    J Med Toxicol 2018 Mar 13. Epub 2018 Mar 13.
    Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    It is conservatively estimated that 5,000 deaths per year and 20,000 injuries in the USA are due to poisonings caused by chemical exposures (e.g., carbon monoxide, cyanide, hydrogen sulfide, phosphides) that are cellular inhibitors. Read More

    Genetic Markers Are Associated with the Ruminal Microbiome and Metabolome in Grain and Sugar Challenged Dairy Heifers.
    Front Genet 2018 27;9:62. Epub 2018 Feb 27.
    Scibus, Camden, NSW, Australia.
    Dairy heifers were subjected to a non-life-threatening challenge designed to induce ruminal acidosis by feeding grain and sugar. Large among animal variation in clinical signs of acidosis, rumen metabolite concentrations, and the rumen microbiome occurred. This exploratory study investigates sources of the variation by examining associations between the genome, metabolome, and microbiome, albeit with a limited population. Read More

    Intentional overdose of dolutegravir/abacavir/lamivudine (Triumeq) in a 
26-year-old man.
    Antivir Ther 2018 Mar 13. Epub 2018 Mar 13.
    Department of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.
    Triumeq is a single-tablet regimen for patients with HIV infection comprising dolutegravir, abacavir and lamivudine. Overdoses with Triumeq have not been reported previously. We present a case of a 26-year-old man who presented to our hospital after intentionally ingesting 30 tablets of Triumeq. Read More

    Clinical use of plasma lactate concentration. Part 2: Prognostic and diagnostic utility and the clinical management of hyperlactatemia.
    J Vet Emerg Crit Care (San Antonio) 2018 Mar;28(2):106-121
    Department of Veterinary Clinical Sciences, Faculty of Veterinary and Agricultural Sciences, University of Melbourne, Werribee, Victoria, Australia.
    Objective: To review the current literature pertaining to the use of lactate as a prognostic indicator and therapeutic guide, the utility of measuring lactate concentrations in body fluids other than blood or plasma, and the clinical management of hyperlactatemia in dogs, cats, and horses.

    Data Sources: Articles were retrieved without date restrictions primarily via PubMed, Scopus, and CAB Abstracts as well as by manual selection.

    Human And Veterinary Data Synthesis: Increased plasma lactate concentrations are associated with increased morbidity and mortality. Read More

    Clinical use of plasma lactate concentration. Part 1: Physiology, pathophysiology, and measurement.
    J Vet Emerg Crit Care (San Antonio) 2018 Mar;28(2):85-105
    Department of Veterinary Clinical Sciences, Faculty of Veterinary and Agricultural Sciences, University of Melbourne, Werribee, Victoria, Australia.
    Objective: To review the current literature with respect to the physiology, pathophysiology, and measurement of lactate.

    Data Sources: Data were sourced from veterinary and human clinical trials, retrospective studies, experimental studies, and review articles. Articles were retrieved without date restrictions and were sourced primarily via PubMed, Scopus, and CAB Abstracts as well as by manual selection. Read More

    Identification of Structural and Molecular Features Involved in the Transport of 3'-Deoxy-Nucleoside Analogs by Human Equilibrative Nucleoside Transporter 3.
    Drug Metab Dispos 2018 May 12;46(5):600-609. Epub 2018 Mar 12.
    Division of Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy (M.F.R., R.R., R.G.) and Translational Therapeutics, Ohio State University Comprehensive Cancer Center (R.G.), The Ohio State University, Columbus, Ohio
    Combination antiretroviral drug treatments depend on 3'-deoxy-nucleoside analogs such as 3'-azido-3'-deoxythymidine (AZT) and 2'3'-dideoxyinosine (DDI). Despite being effective in inhibiting human immunodeficiency virus replication, these drugs produce a range of toxicities, including myopathy, pancreatitis, neuropathy, and lactic acidosis, that are generally considered as sequelae to mitochondrial damage. Although cell surface-localized nucleoside transporters, such as human equilibrative nucleoside transporter 2 (hENT2) and human concentrative nucleoside transporter 1 (hCNT1), are known to increase the carrier-mediated uptake of 3'-deoxy-nucleoside analogs into cells, another ubiquitously expressed intracellular nucleoside transporter (namely, hENT3) has been implicated in the mitochondrial transport of 3'-deoxy-nucleoside analogs. Read More

    Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
    Hum Mol Genet 2018 Mar 6. Epub 2018 Mar 6.
    Wellcome Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
    LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively-inherited, pathogenic defects in LonP1 have been previously reported to underlie cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome, a complex multisystemic and developmental disorder. Intriguingly, although classical mitochondrial disease presentations are well-known to exhibit marked clinical heterogeneity, the skeletal and dental features associated with CODAS syndrome are pathognomonic. Read More

    Lactic Acidosis in Prostate Cancer: Consider the Warburg Effect.
    Case Rep Oncol 2017 Sep-Dec;10(3):1085-1091. Epub 2017 Nov 28.
    Department of Internal Medicine, OLVG West Amsterdam, Amsterdam, The Netherlands.
    Lactic acidosis is a commonly observed clinical condition that is associated with a poor prognosis, especially in malignancies. We describe a case of an 81-year-old patient who presented with symptoms of tachypnea and general discomfort. Arterial blood gas analysis showed a high anion gap acidosis with a lactate level of 9. Read More

    Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
    Mol Genet Metab 2018 Apr 27;123(4):428-432. Epub 2018 Feb 27.
    Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States; Department of Pediatrics, School of Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, United States.
    Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by aldolase B (ALDOB) deficiency resulting in an inability to metabolize fructose. The toxic accumulation of intermediate fructose-1-phosphate causes multiple metabolic disturbances, including postprandial hypoglycemia, lactic acidosis, electrolyte disturbance, and liver/kidney dysfunction. The clinical presentation varies depending on the age of exposure and the load of fructose. Read More

    MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
    EBioMedicine 2018 Apr 24;30:86-93. Epub 2018 Feb 24.
    Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. Electronic address:
    Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Read More

    Early linezolid-associated lactic acidosis in a patient with Child's class C liver cirrhosis and end stage renal disease.
    J Infect Chemother 2018 Mar 1. Epub 2018 Mar 1.
    Department of Pharmacy, National Taiwan University Hospital, College of Medicine, National Taiwan University, 7 Chung Shan S. Rd., Taipei, Taiwan; School of Pharmacy, College of Medicine, National Taiwan University, 33 Linsen South Road, Taipei, Taiwan. Electronic address:
    Linezolid, an oxazolidinone antibiotic, does not required dose adjustment in patients with Child's class A and B liver cirrhosis. The dose adjustment data for Child's class C liver cirrhosis is inadequate. We reported a case of Child's class C liver cirrhosis, in which lactic acidosis, an adverse effect related to prolonged use, occurred only after two weeks of linezolid treatment. Read More

    Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.
    Pediatr Clin North Am 2018 Apr;65(2):375-388
    Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA. Electronic address:
    Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Read More

    [Nephrotoxicity of antiretrovirals other than tenofovir].
    Nephrol Ther 2018 Feb;14(1):55-66
    Service de néphrologie, groupe hospitalier universitaire Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Université Pierre et Marie Curie, 4, place Jussieu, 75005 Paris, France. Electronic address:
    The remarkable improvement of the outcome of HIV infection came with the price of substantial toxicity of some antiretrovirals. The first molecules used to treat HIV included an important nephrotoxicity. Zalcitabine, stavudine and didanosine can induce severe lactic acidosis. Read More

    Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.
    Rev Endocr Metab Disord 2018 Mar 1. Epub 2018 Mar 1.
    Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia.
    The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of metabolism are collectively not infrequent and important to consider as they may be treatable and tragic outcomes avoided. Hyperammonemia or lactic acidosis are most often secondary markers of an acquired primary disease process, but they may be a clue to the presence of a genetic disorder. Read More

    Wet beriberi with multiple organ failure remarkably reversed by thiamine administration: A case report and literature review.
    Medicine (Baltimore) 2018 Mar;97(9):e0010
    Department of Critical Care Medicine, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
    Rationale: Circulatory failure, especially with low systemic vascular resistance (SVR), as observed in septic shock, thyrotoxicosis, and anemia, is a particular pattern that should suggest thiamine (vitamin B1) deficiency. The clinical picture of wet beriberi secondary to thiamine deficiency only demonstrates non-specific clinical manifestations. For a diagnosis of wet beriberi, medical history is very important. Read More

    Impact of lactic acidosis on the survival of Lewis lung carcinoma cells.
    Exp Oncol 2017 Jul;39(2):112-116
    R.E. Kavetsky Institute of Experimental Pathology, Oncology and Radiobiology, NAS of Ukraine, Kyiv 03022, Ukraine.
    Aim: To investigate the effect of lactic acidosis on the survival of Lewis lung carcinoma cells under glucose-deprived conditions.

    Materials And Methods: LLC/R9 variant of Lewis lung carcinoma cells was cultured in glucose deficit or complete culture medium. Conditions of lactic acidosis, lactosis, and acidosis were generated in glucose deficit medium. Read More

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