9,268 results match your criteria Lactic Acidosis


The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.

J Pediatr Endocrinol Metab 2021 Jun 25. Epub 2021 Jun 25.

Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

Objectives: Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes of the mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases of DGUOK deficiency to emphasize the clinical variability of disease and the challenges in the diagnosis of DGUOK deficiency.

Case Presentation: Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein (AFP), alanine, and transaminase levels were detected in all patients, and cholestasis, coagulopathy, and hypotonia were common findings. Read More

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General anesthesia with remimazolam in a patient with mitochondrial encephalomyopathy: a case report.

JA Clin Rep 2021 Jun 23;7(1):51. Epub 2021 Jun 23.

Department of Anesthesiology and Intensive Care Medicine, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, Shizuoka, 431-3192, Japan.

Background: Systemic anesthetic management of patients with mitochondrial disease requires careful preoperative preparation to administer adequate anesthesia and address potential disease-related complications. The appropriate general anesthetic agents to use in these patients remain controversial.

Case Presentation: A 54-year-old woman (height, 145 cm; weight, 43 kg) diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes underwent elective cochlear implantation. Read More

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Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in Gene.

Front Pediatr 2021 7;9:639687. Epub 2021 Jun 7.

Heart Center, Qingdao Women and Children's Hospital, Affiliated to Qingdao University, Qingdao, China.

Sengers syndrome (OMIM #212350) is a rare autosomal recessive disorder due to mutations in acylglycerol kinase () gene. We report two cases that were diagnosed clinically and confirmed genetically. Both infants had typical clinical features characterized by hypertrophic cardiomyopathy, bilateral cataracts, myopathy, and lactic acidosis, and heart failure was the most severe manifestation. Read More

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Intravascular lymphoma presenting with hypoxaemia, platypnoea and lactic acidosis.

BMJ Case Rep 2021 Jun 23;14(6). Epub 2021 Jun 23.

Haematology, Erasmus Hospital, Brussels, Belgium.

Intravascular large B-cell lymphoma (IVLBCL) is an aggressive and rare type of diffuse extranodal B-cell lymphoma. Diagnosis and treatment are challenging and clinical presentation is variable. Physicians should be aware of this rare but life-threatening lymphoma without adenopathy and treatment should be promptly started. Read More

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Characteristics of patients with emergency attendance for severe hypoglycemia and hyperglycemia in a general hospital in Japan.

Medicine (Baltimore) 2021 Jun;100(25):e26505

Department of Cardiology and Diabetes, Oji General Hospital, Tomakomai.

Abstract: Despite advances in treatments for diabetes mellitus (DM), severe acute glycemic crises still occur. In this study, the characteristics of patients who were transported to an emergency department due to acute glycemic crises were investigated.We enrolled patients who were transported to our hospital by ambulance due to hypoglycemia or hyperglycemia during the period from January 2015 to December 2019. Read More

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Whole Blood Thiamine in Organ Donors After the Neurologic Determination of Death.

Prog Transplant 2021 Jun 23:15269248211024607. Epub 2021 Jun 23.

Division of Pediatric Critical Care, Department of Pediatrics, Saint Louis University, St. Louis, MO, USA.

Introduction: Metabolic resuscitation of organ donors and the attenuation of oxidative stress incurred by organs following brain death and transplantation have the potential to improve organ yield and allograft function. Thiamine (vitamin B1) is a vital coenzyme in both energy metabolism and the production of antioxidants that has not been studied in the donor population.

Research Aim: To determine the frequency of subclinical thiamine deficiency in brain-dead organ donors and its correlation with demographics, length of hospitalization, donor management, lactic acidosis, and the requirement for vasoactive support. Read More

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A Unique Case of Pyruvate Carboxylase Deficiency.

Cureus 2021 May 15;13(5):e15042. Epub 2021 May 15.

Neurology, Universidad San Francisco de Quito, Quito, ECU.

Pyruvate carboxylase (PC) converts pyruvate to oxaloacetate, which is an important step in gluconeogenesis. Pyruvate carboxylase deficiency (PCD) is a rare inherited metabolic disorder characterized by movement disorders, neurologic disturbances, hypoglycemia, lactic acidosis, hyperammonemia, and elevated levels of pyruvate and alanine in plasma. The prognosis for PCD is poor. Read More

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Anti-hypoxia effects of walnut oligopeptides ( L.) in mice.

Am J Transl Res 2021 15;13(5):4581-4590. Epub 2021 May 15.

Department of Nutrition and Food Hygiene, School of Public Health, Peking University Beijing 100191, PR China.

Objective: To investigate the anti-hypoxia effects of walnut oligopeptides (WOPs) in mice.

Methods: Randomly divide the mice into 4 experimental sets. Then randomly divide each set of mice into 5 groups, including one vehicle control group, one whey protein group (220 mg/kg), and three WOPs intervention groups (110 mg/kg, 220 mg/kg, 440 mg/kg). Read More

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Relationship Between Lactate Levels and Length of Hospital Stay in Infants with Lower Respiratory Tract Infection.

Pediatr Allergy Immunol Pulmonol 2021 Jun;34(2):68-72

Department of Pediatrics, University of Health Sciences, Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, Istanbul, Turkey.

Increased lactate concentrations are directly related to the severity of shock and mortality rates. There are limited data regarding the prognostic value of lactate among lower respiratory tract infections. We aimed to investigate the impact of lactate levels on admission on the clinical outcomes of children with lower respiratory tract infections. Read More

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Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.

Mol Genet Metab 2021 Jun 10. Epub 2021 Jun 10.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Services, Children's Hospital Colorado, Aurora, CO, USA. Electronic address:

Cardiac dysfunction is a common phenotypic manifestation of primary mitochondrial disease with multiple nuclear and mitochondrial DNA pathogenic variants as a cause, including disorders of mitochondrial translation. To date, five patients have been described with pathogenic variants in MRPL44, encoding the ml44 protein which is part of the large subunit of the mitochondrial ribosome (mitoribosome). Three presented as infants with hypertrophic cardiomyopathy, mild lactic acidosis, and easy fatigue and muscle weakness, whereas two presented in adolescence with myopathy and neurological symptoms. Read More

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The conundrum of Thiamine Responsive Acute Pulmonary Hypertension (TRAPH) syndrome in the Emergency Department.

Am J Emerg Med 2021 Jun 7;49:185-188. Epub 2021 Jun 7.

Department of Emergency Medicine, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

Background: Management of acute pulmonary hypertension in the Emergency Department(ED) can be challenging. The treatment is specialised, requires rapid identification and correction of the precipitating cause; failing which the patient enters a vortex of deterioration. We describe a lesser-known cause for the same, Thiamine responsive acute pulmonary hypertension (TRAPH) syndrome where timely appropriate treatment can result in dramatic improvement. Read More

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Profound Metabolic Acidosis due to Metformin Intoxication Requiring Dialysis.

Case Rep Nephrol 2021 24;2021:9914982. Epub 2021 May 24.

Ingham Nephrology and Hypertension, 405 W Greenlawn Ave # 230, Lansing, MI 48910, USA.

Metformin-associated lactic acidosis (MALA) is a rare but life-threatening condition with often high mortality rates. Despite this, metformin continues to be one of the most commonly prescribed antihyperglycemic agents in the market. We present a unique case of a 61-year-old female with severe acidosis of pH = 6. Read More

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Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

Front Neurosci 2021 28;15:673600. Epub 2021 May 28.

Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.

Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase deficiency, branched-chain α-keto acid dehydrogenase kinase deficiency, urea cycle disorders (UCD), Hartnup disease], organic acidurias (propionic aciduria, L-2 hydroxyglutaric aciduria), cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome), mitochondrial disorders (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes-MELAS syndrome), neurotransmitter disorders (succinic semialdehyde dehydrogenase deficiency), disorders of purine metabolism [adenylosuccinate lyase (ADSL) deficiency, Lesch-Nyhan syndrome], cerebral creatine deficiency syndromes (CCDSs), disorders of folate transport and metabolism (cerebral folate deficiency, methylenetetrahydrofolate reductase deficiency), lysosomal storage disorders [Sanfilippo syndrome, neuronal ceroid lipofuscinoses (NCL), Niemann-Pick disease type C], cerebrotendinous xanthomatosis (CTX), disorders of copper metabolism (Wilson disease), disorders of haem biosynthesis [acute intermittent porphyria (AIP)] and brain iron accumulation diseases. In this review, we briefly describe etiology, clinical presentation, and therapeutic principles, if they exist, for these conditions. Additionally, we suggest the primary and elective laboratory work-up for their successful early diagnosis. Read More

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Assessment of safety and tolerability of remogliflozin etabonate (GSK189075) when administered with total daily dose of 2000 mg of metformin.

BMC Pharmacol Toxicol 2021 Jun 13;22(1):34. Epub 2021 Jun 13.

Glenmark Pharmaceuticals Ltd, Mumbai, India.

Background: Patients with type 2 diabetes mellitus (T2DM) are characterized by an elevated glycemic index and are at a higher risk for complications such as cardiovascular disease, nephropathy, retinopathy and peripheral neuropathy. Normalization of glycemic index can be achieved by dosing combinations of metformin with other anti-diabetic drugs. The present study (Clintrials number NCT00519480) was conducted to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of remogliflozinetabonate, an SGLT2 inhibitor, withdoses (500 mg and 750 mg BID) greater than the commercial dose (100 mg BID)in combination with metformin with minimum daily dose of 2000 mg given in two divided doses. Read More

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Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.

Metab Brain Dis 2021 Jun 12. Epub 2021 Jun 12.

Department of Neurology, International University of Health and Welfare Hospital, 537-3, Iguchi, Nasushiobara, Tochigi, 329-2763, Japan.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a disease that should be considered as a differential diagnosis to acute ischemic stroke taking into account its onset pattern and neurological symptoms, which are similar to those of an ischemic stroke. Technological advancements in neuroimaging modalities have greatly facilitated differential diagnosis between stroke and MELAS on diagnostic imaging. Stroke-like episodes in MELAS have the following features: (1) symptoms are neurolocalized according to lesion site; (2) epileptic seizures are often present; (3) lesion distribution is inconsistent with vascular territory; (4) lesions are common in the posterior brain regions; (5) lesions continuously develop in adjacent sites over several weeks or months; (6) neurological symptoms and stroke-like lesions tend to be reversible, as presented on magnetic resonance imaging; (7) the rate of recurrence is high; and; (8) brain dysfunction and atrophy are slowly progressive. Read More

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Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked variant.

Cold Spring Harb Mol Case Stud 2021 Jun 11;7(3). Epub 2021 Jun 11.

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

Variants in the X-linked gene (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. encodes a mitochondrial flavin adenine dinucleotide (FAD)-dependent nicotinamide adenine dinucleotide (NADH) oxidoreductase, with roles in the regulation of respiratory complex assembly and function, production of reactive oxygen species, and the coordination of a caspase-independent type of apoptosis known as parthanatos. In this report, we describe a missense variant (absent in reference population databases; c. Read More

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Novel deep learning-based transcriptome data analysis for drug-drug interaction prediction with an application in diabetes.

BMC Bioinformatics 2021 Jun 11;22(1):318. Epub 2021 Jun 11.

Big Data Decision Institute, Jinan University, Guangzhou, 510632, China.

Background: Drug-drug interaction (DDI) is a serious public health issue. The L1000 database of the LINCS project has collected millions of genome-wide expressions induced by 20,000 small molecular compounds on 72 cell lines. Whether this unified and comprehensive transcriptome data resource can be used to build a better DDI prediction model is still unclear. Read More

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Acid base disorders in patients with COVID-19.

Int Urol Nephrol 2021 Jun 11. Epub 2021 Jun 11.

Clinic of Infectious Diseases, University Hospital of Modena, Modena, Italy.

Purpose: Acid-base derangement has been poorly described in patients with coronavirus disease 2019 (COVID-19). Considering the high prevalence of pneumonia and kidneys injury in COVID-19, frequent acid-base alterations are expected in patients admitted with SARS-Cov-2 infection. The study aimed to assess the prevalence of acid-base disorders in symptomatic patients with a diagnosis of COVID-19. Read More

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Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations.

Am J Physiol Cell Physiol 2021 Jun 9. Epub 2021 Jun 9.

Muscle Health Research Centre, School of Kinesiology and Health Science, grid.21100.32York University, Toronto, ON, Canada.

Maintaining mitochondrial function and dynamics is crucial for cellular health. In muscle, defects in mitochondria result in severe myopathies where accumulation of damaged mitochondria causes deterioration and dysfunction. Importantly, understanding the role of mitochondria in disease is a necessity to determine future therapeutics. Read More

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Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report.

Radiol Case Rep 2021 Jul 24;16(7):1865-1869. Epub 2021 May 24.

Deparment of Neurology, University Medical Centre, Ho Chi Minh City, Vietnam.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common maternally inherited mitochondrial disorders, with no specific treatment available. We report a case of a 34-year-old female in whom symptoms of MELAS were initially misdiagnosed as herpes simplex encephalitis (HSE). Her clinical course was marked by an acute episode of consciousness disturbance with newly developed lesions on brain MRI five years after disease onset and followed by progressive sensorineural hearing loss. Read More

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Does COVID 19 generate a milieu for propagation of mucormycosis?

Med Hypotheses 2021 Jul 26;152:110613. Epub 2021 May 26.

Department of Oral Pathology and Microbiology, Government Dental College, Kozhikode, Kerala, India.

Corona Virus Disease 2019 (COVID 2019), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is a dreadful infectious disease which has emerged as one of the most significant medical emergency affecting everyone directly or indirectly. COVID 2019 is a multisystem disease and causes severe immunosuppression. Initially thought to affect mainly the respiratory system, it strikes all vital organ systems and cause defects in cardio-circulatory, respiratory system and gastrointestinal systems to name a few leading to copious biochemical alterations. Read More

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Extracellular Acidification Induces Lysosomal Dysregulation.

Cells 2021 May 13;10(5). Epub 2021 May 13.

Department of Cancer Physiology, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA.

Many invasive cancers emerge through a years-long process of somatic evolution, characterized by an accumulation of heritable genetic and epigenetic changes and the emergence of increasingly aggressive clonal populations. In solid tumors, such as breast ductal carcinoma, the extracellular environment for cells within the nascent tumor is harsh and imposes different types of stress on cells, such as hypoxia, nutrient deprivation, and cytokine inflammation. Acidosis is a constant stressor of most cancer cells due to its production through fermentation of glucose to lactic acid in hypoxic or normoxic regions (Warburg effect). Read More

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Clinical Use and Adverse Drug Reactions of Linezolid: A Retrospective Study in Four Belgian Hospital Centers.

Antibiotics (Basel) 2021 May 4;10(5). Epub 2021 May 4.

Pharmacologie Cellulaire et Moléculaire, Louvain Drug Research Institute, Université Catholique de Louvain, B1200 Brussels, Belgium.

In Belgium, linezolid is indicated for pneumonia and skin and soft tissue infections, but is more broadly used, due to its oral bioavailability and activity against multiresistant organisms. This could increase the risk of adverse drug reactions (ADR), notably hematological disorders (anemia, thrombocytopenia), neuropathy, or lactic acidosis. We analyzed linezolid clinical use in relationship with occurrence of ADR in Belgian hospitals and highlighted risk factors associated with the development of thrombocytopenia. Read More

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Identification of a Novel Variant in Causing MELAS.

Front Genet 2021 12;12:638749. Epub 2021 May 12.

Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disease. Most cases of MELAS are caused by the m.3243A > G variant in the gene encoding tRNALeu. Read More

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Linear cortical cystic lesions: Characteristic MR findings in MELAS patients.

Brain Dev 2021 May 25. Epub 2021 May 25.

Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.

Background: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a progressive neurodegenerative disorder with stroke-like lesions. The common MRI findings are gyral swelling and high signal intensity on T2WI/FLAIR images crossing the vascular territories. We have observed a linear cystic lesion and a laminar necrosis in the affected cortices of MELAS patients. Read More

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-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Korean J Gastroenterol 2021 May;77(5):248-252

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

Mitochondrial DNA (mtDNA) depletion syndrome comprises diseases resulting from a deficiency of proteins involved in mtDNA synthesis. is a mitochondrial membrane protein whose mutation causes mitochondrial deoxynucleotide insufficiency. MPV17-related hepatocerebral mtDNA depletion syndrome is a rare autosomal recessive disease. Read More

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Republished: Metformin-associated lactic acidosis: reinforcing learning points.

Drug Ther Bull 2021 May 24. Epub 2021 May 24.

Diabetes and Endocrine Centre, Hadfield Wing, Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

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Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?

Mitochondrion 2021 May 20;59:169-174. Epub 2021 May 20.

CHU Montpellier, Département de Neuropédiatrie, Montpellier, France; INM, University Montpellier, INSERM, Montpellier, France; National Center in Rare Diseases, Genetics of Sensory Diseases, University Hospital, Montpellier, France. Electronic address:

Mitochondrial complex I (CI) deficiencies (OMIM 252010) are the commonest inherited mitochondrial disorders in children. Acyl-CoA dehydrogenase 9 (ACAD9) is a flavoenzyme involved chiefly in CI assembly and possibly in fatty acid oxidation. Biallelic pathogenic variants result in CI dysfunction, with a phenotype ranging from early onset and sometimes fatal mitochondrial encephalopathy with lactic acidosis to late-onset exercise intolerance. Read More

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Lactic acidosis, hypoglycaemia and eosinophilia: novel markers of antibody mediated rejection causing graft ischaemia.

Liver Transpl 2021 May 21. Epub 2021 May 21.

Department of Cellular Pathology, Queen Elizabeth Hospital Birmingham, Birmingham, United Kingdom.

Historically, minimal significance has been given to the humoral immune response after liver transplantation and, despite antibodies against HLA antigens being present in 10-20% of patients awaiting transplant, the incidence of antibody mediated rejection (AMR) after ABO compatible (ABO-C) liver transplantation is low (1).Donor Specific Antibodies (DSA) can lead to early graft loss (2), but most patients awaiting liver transplant are not screened for HLA sensitisation and serum DSA measurement are only undertaken if AMR is suspected. We describe two cases of AMR occurring within one week of ABO-C liver transplantation with previously unreported biochemical and histological characteristics. Read More

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Non-Hodgkin Lymphoma Metabolism.

Adv Exp Med Biol 2021 ;1311:103-116

Department of Chemical and Biomolecular Engineering, Johns Hopkins University Whiting School of Engineering, Baltimore, MD, USA.

Non-Hodgkin lymphomas (NHLs) are a heterogeneous group of lymphoid neoplasms with different biological characteristics. About 90% of all lymphomas in the United States originate from B lymphocytes, while the remaining originate from T cells [1]. The treatment of NHLs depends on the neoplastic histology and stage of the tumor, which will indicate whether radiotherapy, chemotherapy, or a combination is the best suitable treatment [2]. Read More

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