Uma doença metabólica hereditária que ocorre quando há um problema no processamento do piruvato.
Introdução
O que você precisa saber de cara
A doença do metabolismo do piruvato é uma condição genética rara em que o corpo encontra dificuldades para processar o piruvato e produzir energia celular de forma adequada. Essa falha metabólica pode manifestar-se por meio de problemas no coração, como cardiomiopatia, dificuldades para respirar e disfunções no fígado. No momento, esta condição não consta na lista oficial de PCDTs de doenças raras do Ministério da Saúde e não possui remédios específicos com entrega centralizada pelo SUS. O acompanhamento visa controlar as complicações e oferecer suporte clínico nos serviços de referência da rede de saúde pública.
Uma doença metabólica hereditária que ocorre quando há um problema no processamento do piruvato.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 226 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 484 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
37 genes identificados com associação a esta condição.
Pancreatic agenesis 1
A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections
A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.
CODAS syndrome
A rare syndrome characterized by the combination of cerebral, ocular, dental, auricular, and skeletal features. These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts.
Maturity-onset diabetes of the young 14
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Combined oxidative phosphorylation deficiency 24
An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.
Glycogen storage disease 12
A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.
Leucine-induced hypoglycemia
Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.
Anemia, congenital, non-spherocytic hemolytic, 5
An autosomal recessive disorder characterized by hemolytic anemia as the predominant clinical feature, and decreased red cell hexokinase activity.
Anemia, congenital, non-spherocytic hemolytic, 4
An autosomal recessive form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency.
Glycogen storage disease 7
A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.
Pyruvate dehydrogenase E1-beta deficiency
An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.
Phosphoglycerate kinase 1 deficiency
A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations, and some affected individuals develop parkinsonian symptoms.
Renal cysts and diabetes syndrome
An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.
Hyperglycinemia, lactic acidosis, and seizures
An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine.
Glycogen storage disease 13
A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis.
Glycogen storage disease 10
A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.
D-lactic aciduria with gout
An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid.
Maturity-onset diabetes of the young 6
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Hepatic adenomas familial
Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).
Glycogen storage disease 11
A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue.
Pyruvate dehydrogenase E3-binding protein deficiency
A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation.
Triosephosphate isomerase deficiency
An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.
Dihydrolipoamide dehydrogenase deficiency
An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism.
Pyruvate dehydrogenase E1-alpha deficiency
An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.
Mitochondrial pyruvate carrier deficiency
An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.
Maturity-onset diabetes of the young 11
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Hyperproinsulinemia
An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material.
Lactate dehydrogenase B deficiency
A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.
Pyruvate kinase hyperactivity
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Maturity-onset diabetes of the young 8 with exocrine dysfunction
An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age.
Maturity-onset diabetes of the young 7
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Type 2 diabetes mellitus
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Maturity-onset diabetes of the young 1
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Hyperinsulinemic hypoglycemia, familial, 2
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive.
Variantes genéticas (ClinVar)
345 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
92 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença do metabolismo do piruvato
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo do piruvato
Centros para Doença do metabolismo do piruvato
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Loss of Ezh2 promotes M2-like macrophage polarization in hepatocellular carcinoma.
Tumor-associated macrophages (TAMs) promote tumor progression and metastasis. Ezh2, the catalytic component of Polycomb repressive complex 2, mediates transcriptional silencing through H3K27me3 deposition. Here, we demonstrate that Ezh2 deficiency in bone marrow-derived macrophages (BMDMs) enhances M2-like polarization upon exposure to conditioned media from Hepa1-6 hepatocellular carcinoma cells. RNA-seq analysis revealed stronger induction of M2-associated genes in conditioned Ezh2 knockout BMDMs compared with wild-type controls, along with enrichment of glycolysis and JAK/STAT signaling pathways. ATAC-seq showed increased chromatin accessibility at promoters of pyruvate metabolism-related genes and reduced H3K27me3 enrichment in Ezh2-deficient macrophages. Metabolic flux analysis confirmed elevated glycolytic activity in Ezh2 knockout BMDMs. Furthermore, phosphorylated STAT3 levels positively correlated with the M2 marker ArgI, and both were further increased in the absence of Ezh2. These findings suggest that Ezh2 restrains glycolytic reprogramming and limits hepatocellular carcinoma-induced M2-like macrophage polarization.
Pyruvate kinase activators in hereditary haemolytic anaemias: current evidence and clinical potential.
Hereditary haemolytic anaemias represent the most prevalent group of genetic disorders worldwide and have a substantial impact on global health. Current treatments are few and primarily supportive. Recent studies suggest a crucial and overlapping role of metabolic impairment of red blood cells in these diseases, extending beyond the primary genetic defect. Pyruvate kinase activators enhance glycolysis, thereby targeting this shared metabolic impairment by increasing ATP production and improving cellular homeostasis. The first pyruvate kinase activator has been approved for the treatment of pyruvate kinase deficiency. Clinical trials evaluating pyruvate kinase activators in other haemolytic disorders, including thalassaemia, sickle cell disease, and red blood cell membrane disorders have provided evidence of clinical efficacy by ameliorating haemolytic anaemia and improving other disease-related outcomes, while maintaining a generally favourable safety profile. Ongoing preclinical and translational research continues to provide further insights into other potential indications for pyruvate kinase activators.
Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder caused by defective conversion of methylmalonyl-CoA to succinyl-CoA. Emerging evidence suggests that both dietary protein composition and intestinal microbiota influence metabolic stability and clinical outcomes. This study aimed to evaluate the effects of stepwise dietary modification and short-term metronidazole therapy on systemic and gut-derived metabolic profiles in MMA. In this prospective, longitudinal, single-center study, eight genetically confirmed MMA patients underwent four sequential phases: baseline mixed-protein diet (50% intact protein/50% medical formula), protein restriction, intact protein enrichment (80% intact protein/20% medical formula), and adjunctive metronidazole therapy (20 mg/kg/day, 10 days/month for 3 months). Plasma amino acids, urinary metabolites, stool microbiota (16S rRNA long-read sequencing), and untargeted/tandem metabolomic profiles were analyzed at each phase. Transition to an intact protein-enriched diet significantly reduced plasma leucine levels (p = 0.008) without affecting isoleucine or valine. Urinary methylmalonic acid, 3-hydroxypropionate, lactate, and pyruvate decreased, indicating improved propionyl-CoA clearance. Microbiota diversity progressively declined, accompanied by reductions in butyrate-producing genera (Novisyntrophococcus, Lacrimispora, Hespellia). Metronidazole further lowered urinary methylmalonic acid and 3-hydroxypropionate (p = 0.017 and p = 0.028), with parallel decreases in fecal 3-indolelactic acid and phytosphingosine, suggesting suppression of gut-derived propionate and tryptophan metabolism. Despite antibiotic-induced dysbiosis with expansion of Trabulsiella (Proteobacteria), systemic propiogenic burden decreased. A phased dietary regimen emphasizing intact protein, combined with intermittent metronidazole therapy, favorably modulated biochemical and microbial parameters in MMA. These findings support microbiome-informed dietary strategies and selective gut-targeted interventions to optimize metabolic control in organic acidemias.
DADA Enhances CD8+ T Cell Stemness to Improve Anti-Tumor Immunity and Immunotherapy Efficacy.
Progenitor exhausted CD8+ T (Tpex) cells have recently been identified as a stem-like T cell subset that mediates durable anti-tumor immune responses and represents a pivotal population responsive to immunotherapies. Here, it is demonstrated that diisopropylamine dichloroacetate (DADA) facilitates CD8+ T cell-mediated anti-tumor immunity and promotes Tpex cells accumulation in the tumor microenvironment. Mechanistically, DADA promotes the conversion from pyruvate to Acetyl-CoA by inhibiting pyruvate dehydrogenase kinase. This process leads to increased oxidative phosphorylation (OXPHOS) and mitochondrial fitness, thereby enhancing CD8+ T cells stemness. Treatment of mice with DADA improves the efficacy of PD-1 blockade. Furthermore, the in vitro expansion of chimeric antigen receptor (CAR)-T cells supplemented with DADA confers them with stemness characteristics, contributing to improved anti-tumor efficacy. Collectively, this study illustrates how DADA-mediated metabolic reprogramming in CD8+ T cell enhances their stemness, underscoring its potential for anti-tumor therapy.
SIRT1 mediates brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism.
Inborn errors of vitamin B12 metabolism (IECM) resulting from impaired methionine synthase (MTR) activity cause severe cognitive and neurological deficits that remain unresponsive to conventional B12 supplementation. Using a brain-specific Mtr knockout mouse model, we identify the NAD+-dependent deacetylase SIRT1 as a central regulator of the pathological phenotype and evaluate the therapeutic efficacy of its pharmacological activator SRT2104. MS deficiency induces profound metabolic, mitochondrial, and epigenomic alterations in the hippocampus, including promoter hypermethylation of the pyruvate dehydrogenase complex, impaired tricarboxylic acid (TCA) cycle activity, and reduced SIRT1 expression. At the functional level, we observe disrupted Wnt signaling associated with decreased neurogenesis, increased astrocytosis, and cognitive impairment. SRT2104 treatment restores mitochondrial and energy metabolism, normalizes Wnt signaling and neurogenesis markers, and rescues learning and memory performance. These findings identify SIRT1 as a therapeutic target in B12-related neurodevelopmental disorders and support the clinical repurposing of SRT2104 to alleviate persistent neurological symptoms.
Publicações recentes
[3-(11)C]Pyruvate PET detects alterations in cardiac pyruvate metabolism induced by doxorubicin chemotherapy.
Metabolic and functional pathways of gut microbiota in patients with gastric cancer.
Revealing dissolved organic nitrogen transformation during the oxic process in 50 full-scale sewage treatment plants: Molecular and microbial mechanism.
Valorization of vegetable waste into a lactate-rich soil amendment via simultaneous saccharification and fermentation with a microbial consortium.
Revealing the microbial diversity and functional annotation during postharvest storage of sweet cherry using metagenomics.
📚 EuropePMCmostrando 199
Metabolic and mitochondrial alterations in children with autism spectrum disorder: The role of FGF-21 and GDF-15.
Clinica chimica acta; international journal of clinical chemistryLoss of Ezh2 promotes M2-like macrophage polarization in hepatocellular carcinoma.
iScienceA review of the mechanisms linking Th2 immune storm to NETosis through neutrophil glycolytic activation.
International journal of biological macromoleculesUnveiling biomarkers of telitacicept's efficacy in SLE treatment through proteomics and metabolomics.
Frontiers in immunologyGlycolytic alterations as biomarkers in polycystic kidney disease: A study using a PKD1 knockout model in NRK-52E rat kidney epithelial cells.
Physiological reportsSspdhx Related to the Development and Virulence of Sclerotinia sclerotiorum Represents a Potential RNAi Target for Controlling Sclerotinia Disease.
Molecular plant pathologyAerobic Exercise Ameliorates Adverse Vascular Remodeling in Diabetes via PDK1/FoxO1 Axis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyEnhanced Mitochondrial Mrs2-Mg2+ Signaling Drives Mitochondrial Dysfunction in Pulmonary Arterial Hypertension Rats.
Hypertension (Dallas, Tex. : 1979)Pyruvate kinase activators in hereditary haemolytic anaemias: current evidence and clinical potential.
Lancet (London, England)AARS2 R199C mutation induces lactylation-driven premature ovarian insufficiency phenotypes partially reversible by SIRT3.
Reproduction (Cambridge, England)Bilirubin Ameliorates Oleic and Palmitic Acid Accumulation in an In Vitro Model of MASLD.
Physiological researchGlycosomal Phosphoenolpyruvate Carboxykinase CRISPR/Cas9-Deletion and Its Role in Trypanosoma cruzi Metacyclogenesis and Infectivity in Mammalian Host.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyDietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.
Journal of inherited metabolic diseasePGK1 Lactylation-Driven Self-Reinforcing Loop Orchestrates Glycolytic Reprogramming in FSP1+ Macrophages in Liver Fibrosis.
Research (Washington, D.C.)Bacteria and phage consortia modulate cecal SCFA production and host metabolism to enhance feed efficiency in ducks.
MicrobiomeThe impact of and changes in the oxidative status in the post-injury period following nonpenetrating traumatic brain injuries.
The Journal of international medical researchIncreased Cerebrospinal Fluid Lactate Levels in Schizophrenia and Major Depressive Disorder: NCNP Biobank Study in Japan.
Neuropsychopharmacology reportsEmerging regulators of endothelial lipid metabolism in atherosclerosis.
Current opinion in lipidologySerial Prenatal Imaging of Ganglionic Eminence Evolution: A PDHA1-Variant Case Demonstrating Metabolic Brain Injury Dynamics.
Journal of clinical ultrasound : JCUDADA Enhances CD8+ T Cell Stemness to Improve Anti-Tumor Immunity and Immunotherapy Efficacy.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Single-Atom Nanozyme Driven Lactate Reversal Fuels Oxidative Metabolism and Represses Lactylation to Heal Diabetic Wounds.
ACS nanoBody-Wide Glycolytic Shift, Oxidative Stress, and Sex-Specific Effect of Caloric Restriction in a Mouse Model of Alzheimer's Disease.
Antioxidants (Basel, Switzerland)SIRT1 mediates brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism.
Cell reports. MedicineExploring UVA1-Induced Metabolic Effects in Different In Vitro, Ex Vivo, and In Vivo Systems.
Metabolites[Electroacupuncture of "Shenmen"(HT7) regulates the pyruvate-lactate metabolic axis to improve myocardial injury in acute myocardial ischemia rats].
Zhen ci yan jiu = Acupuncture researchIntegrative omics analysis reveals distinct adaptations of bongkrekic acid producing Burkholderia gladioli pathovar cocovenenans strains.
Frontiers in microbiology4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.
bioRxiv : the preprint server for biologyTestosterone plus lifestyle therapy improves skeletal muscle glycolysis in older men with obesity and hypogonadism.
Frontiers in endocrinologyCardiometabolic and metabolic profiles in irritable bowel syndrome associated with type 2 diabetes.
American journal of physiology. Endocrinology and metabolismLactate targeting: Regulatory networks and therapeutic potential in bone diseases.
International immunopharmacologyPlasma metabolomics reveals distinct metabolic alterations and biomarkers of disease activity in HLA-B27-positive acute anterior uveitis.
Eye (London, England)Morphophysiological disorders and metabolic reprogramming in Physalis peruviana infected with the physalis rugose mosaic virus.
Scientific reportsTopical ionic liquid-mediated GLUT1 gene editing ameliorates psoriasis and prevents recurrence.
BiomaterialsTargeting PDK4 attenuates neointimal hyperplasia and regulates VSMC phenotypic switching, apoptosis, and autophagy.
Biochemical pharmacologyLiver Metabolomic Profiling Reveals Distinct Signatures Between Steatosis and Metabolic Dysfunction-Associated Steatohepatitis.
Liver international : official journal of the International Association for the Study of the LiverBulk and Single-Cell Transcriptomics Reveal That SCO2 Drives Psoriasis via Activating CCR7+ Dendritic Cell.
International journal of molecular sciencesTranscriptional and epigenetic control of human naïve CD8+ T cell activation.
Frontiers in immunologyMetabolomic Signatures of Spontaneous Isolated Superior Mesenteric Artery Dissection: Indole Derivatives and Lysophospholipids as Novel Biomarkers.
ElectrophoresisFumaric acid restores neomycin efficacy against carbapenem-resistant Vibrio parahaemolyticus through metabolic reprogramming.
Journal of hazardous materialsMetabolomic Analysis of Metabolic Syndrome and Effects of Wharton's Jelly Mesenchymal Stem Cell Small Extracellular Vesicles Therapy in Rat Models Using Nuclear Magnetic Resonance Spectroscopy.
Cell biochemistry and functionLongitudinal multi-omics pilot study: Small sample size human model of gut microbiota-mitochondrial metabolic dysregulation in primary biliary cholangitis.
Microbiological researchNMR metabolomic profiling of cerebrospinal fluid from dogs with meningoencephalitis of unknown origin demonstrates metabolic similarities to multiple sclerosis.
Metabolomics : Official journal of the Metabolomic SocietyCoptisine alleviates insulin resistance by suppressing SMARCE1-mediated glycolysis.
Biochemical and biophysical research communicationscircMFN2 Regulates the IGF2BP3-PDK4 to Ameliorate Pulmonary Hypertension.
Hypertension (Dallas, Tex. : 1979)Mult omics reveal the mechanism of solid dispersion of genistein in alleviating fatty liver hemorrhagic syndrome in laying hens.
Poultry scienceSex‑specific cardiovascular risk in estrogen‑treated androgen‑deprived males: metabolic characterization of glucose, adipose, and lipid pathways.
Cardiovascular diabetology¹H-NMR serum metabolomic profiling from clinical routine identifies signatures of progressive melanoma metastasis.
Scientific reportsDecoding IL4I1: The Core role of metabolism-driven immune regulation and new perspectives on disease targeting.
Bioorganic chemistryRSK2 facilitates beige fat formation through thermogenic and glycolytic pathways.
Journal of thermal biologyEffects of Dietary Supplementation with Dihydromyricetin on Hindgut Microbiota and Metabolite Profiles in Dairy Cows.
MicroorganismsImpact of Modified Lactoperoxidase Systems on Glycolytic Metabolism and Virulence Factors in Streptococcus mutans.
International journal of molecular sciencesTranscriptomics combined with metabolomics to elucidate the mechanisms of bacterial otitis media infection: insights from mitochondrial dysfunction.
BMC microbiologyThe LncRNA11-hnRNPA1 functional axis maintains adipose tissue metabolic homeostasis by promoting mitochondrial respiration and lipid utilization.
International journal of biological macromoleculesActive LXR signaling, coupled with elevated mitochondrial and glycolytic metabolism contributes to GM-CSF-induced trained immunity.
Frontiers in immunologyShikonin attenuates diabetic Parkinsonian neuronal injury by facilitating p53/SLC25A28-mediated iron shuttling.
Biochemical pharmacologyAcute hepatic injury and metabolic response in hybrid grouper (Epinephelus fuscoguttatus ♀ × Epinephelus lanceolatus ♂) to high-dose Vibrio harveyi infection.
Veterinary research communications[Electroacupuncture alleviates anxiety-like behavior in PTSD rats via modulating glycolysis/H4K12la/HIF-1α signaling pathway].
Zhen ci yan jiu = Acupuncture researchElectroacupuncture improves diabetes-associated cognitive impairment in rats: potential involvement of hippocampal insulin receptor substrates 1/phosphatidylinositol 3-kinase/protein kinase B signaling pathway activation.
NeuroreportPyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice.
JCI insightBioengineered extracellular vesicles escape lysosomal degradation and deliver Tet-PKM2 for macrophage immunometabolic reprogramming and periodontitis treatment.
Bioactive materialsQishen Yiqi Dropping Pills ameliorate acute myocardial infarction by modulating PKM2/STAT3 pathway-mediated metabolic reprogramming in macrophages.
Phytomedicine : international journal of phytotherapy and phytopharmacologyInvestigation of a viable but non-culturable state in Porphyromonas gingivalis and host cell invasion.
PloS oneAroclor 1254 inhibits anti-inflammatory macrophage polarization through an AhR-dependent mechanism.
Journal of the Endocrine SocietyGinsenoside Rg3 antagonises endometriosis glycolysis via the tripartite motif containing 28 and pyruvate dehydrogenase kinase 4 signalling pathway.
Phytomedicine : international journal of phytotherapy and phytopharmacologyPKM1 is required for embryonic cardiomyocyte proliferation through energetic regulation of NFYa stability.
National science reviewMulti-biofluid metabolomics coupled with gene network reveals stage-specific alterations in mild cognitive impairment and Alzheimer's disease in an ethnically mixed cohort.
Brain researchPyruvate metabolism is involved in adaptability and cariogenicity of Streptococcus mutans.
Journal of oral microbiologyCrosstalk between arachidonic acid metabolism and glycolysis drives integrated metabolic-inflammatory reprogramming in macrophages.
International journal of biological sciencesShen-Shuai-II-Recipe inhibits aerobic glycolysis through SIRT1 in 5/6 ablation/infarction renal failure model.
Scientific reportsDecoding TREM2 Signaling Pathways: Linking Macrophage Glycolysis to Inflammatory Diseases in the CNS.
Neurology(R) neuroimmunology & neuroinflammationAlterations in lipid, redox, and energy metabolism in recent onset psychosis: a metabolomics study in non-smoking individuals and matched controls.
Redox biologyTestosterone deficiency synergistically exacerbates fructose-induced hepatic steatosis through gut microbiota and pyruvate in mice.
American journal of physiology. Endocrinology and metabolismHistone Lactylation-Mediated Metabolic Remodeling in Vascular Smooth Muscle Cells Aggravates Aortic Aneurysm and Dissection by Promoting Lactate Accumulation.
CirculationThe ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.
Annals of medicineFenitrothion exposure induces hyperglycemia in juvenile rats: Impeded glycolysis and promoted gluconeogenesis mediated by acetyl-CoA and oxaloacetate metabolism dysregulation.
Journal of hazardous materialsComprehensive metabolomic/lipidomic characterization of patients with mitochondrial ATP synthase, short-chain acyl-CoA dehydrogenase and combined variant deficiencies.
HeliyonElevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency.
Molecular genetics and metabolismShikonin alleviates rotenone-induced Parkinson's disease neuroinflammation by targeting PKM2-mediated glycolytic MG-Hs production.
Cell communication and signaling : CCSGanzhirong Granule Inhibits Hepatic Gluconeogenesis through the SIRT3-MPC1-PC/PDH Axis in Type 2 Diabetes.
Journal of visualized experiments : JoVEEffect of IFN-τ on intestinal flora and metabolomics of Escherichia coli-mediated endometritis in mice.
Frontiers in microbiologyPolystyrene Microplastics and Bisphenol A Exposure Worsen Intestinal Injury in Diabetic Mice by Disrupting Gut Microbiota and Metabolites.
Chemical research in toxicologyCombinatorial library design approach identifies a novel benzothiazole-based hexokinase 2 inhibitor with anti-tumor efficacy in oral squamous cell carcinoma.
European journal of medicinal chemistryFrom Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Journal of child neurologySmall Gold Nanoparticles Alleviate Huntington's Disease via Modulating p38α Mitogen-Activated Protein Kinase and Pyruvate Dehydrogenase Kinase 1.
ACS nanoPI3K/Akt/mTOR signaling pathway mediates energy metabolic reprogramming and regulates mitochondrial homeostasis in host cells exposed to Toxoplasma gondii.
Microbiology spectrumMitochondrial pyruvate metabolism in club cells drives airway inflammation.
Stem cell reportsF13A1-Mediated Macrophage Activation Promotes MASH Progression via the PKM2/HIF1A Pathway.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Synergistic effects of high temperature and hypoxia on energy metabolism and physiological homeostasis in the Chinese mitten crab (Eriocheir sinensis).
Comparative biochemistry and physiology. Toxicology & pharmacology : CBPBiomarkers of Glycolysis and the Tricarboxylic Acid Cycle in Youth with and without Obesity.
Hormone research in paediatricsIMPROVE-DiCE, a 2-Part, Open-Label, Phase 2a Trial Evaluating the Safety and Effectiveness of Ninerafaxstat in Patients With Cardiometabolic Syndromes.
CirculationMetabolic adaptation in colorectal cancer microenvironment: Focus on cancer-associated fibroblasts (CAFs) and tumor-associated macrophages (TAMs).
Experimental cell researchThe fate of pyruvate dictates cell growth by modulating cellular redox potential.
eLifeIntegrated multi-omics analysis of renal metabolism in domestic cats with spontaneous chronic kidney disease.
Communications biologyGLP-1RA partially alleviates obesity-induced reproductive dysfunction driven by the interplay mechanisms of inflammation and metabolic dysregulation via the SIRT-associated pathway.
European journal of pharmacologySalivary metabolite-based prediction of radiotherapy-induced oral mucositis and candidiasis.
Clinical oral investigationsQuantitative LFQ-DIA proteomics reveals FTH1-MCM5/WNT axis mediated osteoblastic dysfunction via ferroptosis drives diabetic osteoporosis.
Scientific reportsS-Nitrosylation of Pyruvate Kinase Isoform 2 Drives Cardiac Fibrosis by Promoting Mitochondrial Fission.
CirculationProteomic profiles of Lissachatina (Heterobranchia) and Pomacea (Caenogastropoda) snails infected with Angiostrongylus cantonensis using 4D label-free quantitative analysis.
PLoS neglected tropical diseasesRelationships of GDAP1 Mutations to Disease Phenotype and Mechanisms of Therapeutic Action of Oxidative Metabolism Activators in a Patient with Charcot-Marie-Tooth Neuropathy Type 2K.
Biochemistry. BiokhimiiaAging and metabolism in HFpEF: Pathophysiology and therapeutic implications.
Metabolism: clinical and experimentalPrecursor feeding strategy of oxydifficidin production in submerged culture of Bacillus velezensis 8-2 and its biological control potential against soft rot disease.
Pesticide biochemistry and physiologyPDK4 suppresses high glucose-induced microglial ferroptosis by restricting pro-ferroptotic PUFA biosynthesis.
NeuroreportSIRT3 regulates PDHA1 acetylation in HUVECs to modulate inflammation and pyroptosis under clinorotation.
iSciencePumpkin Polysaccharide Ameliorates Type 2 Diabetes in Mice via Inhibition of p38 MAPK, Activation of PINK1-PRKN Mitophagy, and Gut Microbiota Modulation.
Molecular nutrition & food researchImpaired metabolic cooperation between oocyte and granulosa cells may contribute to the disrupted folliculogenesis and poor oocyte quality in PCOS.
Life sciencesCytokine and Metabolomic Signatures of Mepolizumab Response Across Upper and Lower Airway Compartments in Severe Eosinophilic Asthma: An Exploratory Analysis.
Pharmaceuticals (Basel, Switzerland)HBV induces liver fibrosis through the generation of reactive oxygen species in a pyruvate-dependent manner.
Hepatology (Baltimore, Md.)Metabolomic Investigation of Myelodysplastic Syndromes, Multiple Myeloma, and Homozygous β-Thalassemia.
CellsLactate dehydrogenase inhibitors: A promising candidate against aging and fibrosis.
European journal of medicinal chemistryDrosophila Pyruvate Kinase Links Metabolic State with Circadian Output via TARANIS and PDF.
Research squareMetabolic Reprogramming Intermediates of Glucose Regulate Macrophage Polarization: An Important Direction for Ameliorating Pulmonary Vascular Remodeling.
Journal of inflammation researchRational design of next-generation PDK1 modulators: Addressing selectivity and resistance through molecular insights - A medicinal chemistry perspective.
Bioorganic chemistryPyruvate kinase M2 -mediated histone lactylation alters three-dimensional genomic architecture in polycystic ovary syndrome.
Signal transduction and targeted therapySuccessful endodontic treatment improves glucose and lipid metabolism: a longitudinal metabolomic study.
Journal of translational medicineGlycolysis-mediated energy metabolism mechanisms: Synergistic antifungal activity of (±)-methylagrimonolide against drug-resistant Candida albicans.
Bioorganic chemistryThe genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Brain : a journal of neurologyBehavioral Balance in Tryptophan Turmoil: Regional Metabolic Rewiring in Kynurenine Aminotransferase II Knockout Mice.
CellsACLY facilitates alanine flux in the livers of db/db mice: a hyperpolarized [1-13C]pyruvate MRS study.
Frontiers in endocrinology13C metabolic tracing in human SGBS cells provides a potential new approach methodology for assessing metabolism-disrupting properties of environmental chemicals.
Journal of hazardous materials30-Channel Microcoil System for High-Throughput Metabolic Flux Analysis Using Hyperpolarized 13C NMR Spectroscopy.
NMR in biomedicineMetabolomics and glucose tolerance in pregnancy and postpartum: The PONCH study.
PloS oneThe role of the pentose phosphate pathway in the development of metabolic disorders in the testes during rat intoxication with cypermethrin.
Reproductive toxicology (Elmsford, N.Y.)Mitochondrial proteins contribute to the pathogenesis of myasthenia gravis.
Scientific reportsMitochondrial Leigh syndrome: the state of the art.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieC1QTNF1-AS1/miR-346 axis suppresses osteosarcoma progression via dual inhibition of LDHA/PDK1-mediated Warburg effect.
BMC cancerPotential Targets and Mechanism of Action of Wangwei Powder in Tic Disorder Therapy: Bioinformatics and Network Pharmacology Analyses.
Current medicinal chemistryDifferentiated T Lymphocytes and Cancer Cell Mitochondrial Metabolism to Enhance Radioimmunotherapy by a Biomimetic Nanozyme System.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)High molecular weight hyaluronic acid improves salinity tolerance of Nile tilapia (Oreochromis niloticus) by mitigating apoptosis, alleviating oxidative stress and regulating carbohydrate metabolism.
International journal of biological macromoleculesAdvancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samples.
Analytical biochemistryMetabolomics in stress-related disorders: a systematic review and bioinformatics analysis.
Naunyn-Schmiedeberg's archives of pharmacologyPneumococcal H₂O₂ reshapes mitochondrial function and reprograms host cell metabolism.
mBioLysine potentiates insulin secretion via AASS-dependent catabolism and regulation of GABA content and signaling.
Metabolism: clinical and experimentalPhthalates exposure as a risk factor for gestational diabetes mellitus: Integrated evidence from epidemiological and human liver organoids studies.
Ecotoxicology and environmental safetyThe Hepatoprotective Properties of the Revised Formulation of Dahuang Xiaoshi Tang, an Ancient Chinese Herbal Decoction, Are Probed by Integrated Metabolomics and Network Pharmacology.
Pharmaceuticals (Basel, Switzerland)Malvidin-3,5-O-diglucoside derived from spine grape (Vitis davidii) inhibits fructose-induced lipid accumulation in HepG2 cells: beneficial effects on MASLD treatment.
Naunyn-Schmiedeberg's archives of pharmacologyThe Hidden Players of the Fecal Metabolome: Metabolic Dysregulation Beyond SCFAs Under a High-Fat Diet.
MetabolitesMPC-mediated lactate production drives histone lactylation in dendritic cells to affect tumor progression and immunotherapy.
Cellular and molecular life sciences : CMLSUbiquitin-specific protease 7 regulates macrophage polarization via pyruvate kinase M2-mediated metabolic reprogramming in severe acute pancreatitis.
Cell death & diseaseHNF1α-Q125ter-mediated mitochondrial dysfunction and impaired mitophagy in β-cells.
Journal of molecular endocrinologyAn Efficient CO2-Upcycling Platform Based on Engineered Halomonas TD with Enhanced Acetate-Utilizing Capacity via Adaptive Laboratory Evolution.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Recent progress in the development of small molecule pyruvate kinase M2 inhibitors: 2020-2025.
Future medicinal chemistryHuoXue QianYang QuTan recipe attenuates myocardial hypertrophy in obese hypertensive rats by regulating MPC1/MCT4 mediated pyruvate-lactate metabolic axis.
Chinese medicineDifferential expression of glycolysis-related genes and their potential immune mechanisms in acute myocardial infarction.
Journal of cardiothoracic surgeryEvaluation of Citral and Green Silver Nanoparticles From Cymbopogon citratus Extract on Biochemical Profile and Nrf2 Gene Expression in Liver Tissue of Type 2 Diabetic Rats.
BioMed research internationalTargeting mitochondrial transporters and metabolic reprogramming for disease treatment.
Journal of translational medicineRole of macrophage PKM2 in inflammation and tumor progression and its targeted therapy.
Biochimica et biophysica acta. Reviews on cancerSerum Liver Enzymes in Metabolic Syndrome and Nonmetabolic Syndrome Patients: A Case-Control Study.
The Journal of the Association of Physicians of IndiaLactylation-induced ALKBH5 targets RNF123 to worsen retinal Müller cell activation through PKM2-regulated Glycolysis in diabetic retinopathy.
Journal of translational medicineThe Umbelliprenin-CTAB cellulose nanocrystal delivery system prevents hyperglycemia in diabetic rats by activating the insulin receptor IR/PDK1 pathway.
Scientific reportsEvaluation of atypical antipsychotic-induced mitochondrial dysfunction in patients with schizophrenia: a randomised controlled trial protocol.
BMJ openInterplay between malic enzyme 2, de novo serine synthesis, and the malate-aspartate shuttle drives metabolic adaptation in triple-negative breast cancer.
Cancer & metabolism[Mechanism of Tougu Xiaotong Capsules in alleviating glycolytic metabolism disorder of chondrocytes in osteoarthritis by modulating circFOXO3].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaThe role of glycolysis in MASLD development: Pathogenesis and therapeutic strategies.
Pharmacological researchReal-Time Intracellular Bacterial Metabolism During Shigella Infection Using Hyperpolarized [2-13C]Pyruvate.
NMR in biomedicineMulti-omics insights into microbiome-rumen epithelium interaction mechanisms underlying subacute rumen acidosis tolerance in dairy goats.
Genome biologyMicroRNA-411-5p alleviates hepatic insulin resistance via suppressing transcription factor Sp2 in MASLD mice.
Journal of molecular endocrinologyEthyl acetate extract of Sargentodoxa cuneata and Patrinia villosa alleviates pelvic inflammation by shifting macrophages polarization.
Phytomedicine : international journal of phytotherapy and phytopharmacologyNeuroprotective effects of bavachalcone in a mouse model of Parkinson's disease: linking the gut-brain axis and systemic metabolism.
Frontiers in neuroscienceRefractory high anion gap metabolic acidosis due to chronic paracetamol use: a case report.
Journal of medical case reportsSerum metabolic disparity between patients with lymph node tuberculosis and patients with sarcoidosis: towards differential diagnosis.
BMC pulmonary medicineSex-dependent effects of a high-fat diet-induced obesity model on cerebrovascular health and brain metabolism.
Experimental physiologyIntegrated molecular data analysis confirms PDK1 as a candidate risk factor in ALS pathophysiology.
Molecular brainComplementary Muscle Metabolomics and Proteomics of Muscle in Cows With Post-Calving Ketosis.
Journal of veterinary internal medicineActivin receptor type IIA/IIB blockade increases muscle mass and strength, but compromises glycemic control in mice.
Molecular metabolismCDH1 Orchestrates Anabolic Events to Promote Cell Cycle Initiation.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Glycolysis Plays a Critical and Dual Role in Periodontitis.
Journal of cellular physiologyAdiponectin pathway regulates cerebral metabolic dysfunction and neuroinflammation via the AdipoR1/PI3K/Akt axis in Perioperative Neurocognitive Disorder.
BMC geriatricsCopper, Cuproptosis, and Neurodegenerative Diseases.
International journal of molecular sciencesComprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
Genetics in medicine : official journal of the American College of Medical GeneticsThe Beneficial Effect of Lycium barbarum Polysaccharides on Insulin Resistance and Hepatic Glucose Production in Diabetes.
Analytical cellular pathology (Amsterdam)Performance of novel biomarkers for prediction of diabetic kidney disease in patients with diabetes mellitus.
Annals of medicineIdentification of peripheral biomarkers through metabolomic analysis in patients with bipolar disorder treated with mood stabilizers: an exploratory study.
The international journal of neuropsychopharmacologyDysregulation of PKM2 promotes inflammatory response in allergic rhinitis.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Brown adipose tissue activity impacts systemic lactate clearance in male mice.
The Journal of physiologyUnraveling the persistent renal impact of intrauterine growth restriction and catch-up growth: integrating morphological insights with metabolomic profiling.
Journal of molecular histologyHeterodera avenae Effector HaGLAND5 Promotes Nematode Parasitism by Suppressing Wheat Immunity through Enhancing Acetylation of Susceptibility Gene TaEMB3003.
Journal of agricultural and food chemistryTryptophan metabolite atlas uncovers organ, age, and sex-specific variations.
FEBS open bioPyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.
International journal of laboratory hematologyPDHA1-mediated H3K18 lactylation is involved in arsenic-induced nonalcoholic fatty liver disease by activating the CD36-NLRP3 inflammasome axis.
Journal of hazardous materialsSpatial Metabolism of Primary Limited Cutaneous Amyloidosis Based on Mass Spectrometry Imaging.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyMetabolic modulation of pyruvate dehydrogenase and glucose oxidation in diabetic cardiomyopathy: pathways, perspectives, and potentials.
American journal of physiology. Heart and circulatory physiologyArtemether ameliorates type 1 diabetes mellitus by modulating glycolipid metabolism in skeletal muscle.
American journal of translational researchMetabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids.
Clinical and translational medicineOctenyl Succinic Anhydride Starch Alleviates Alcoholic Liver Disease by Modulating Gut Microbiota and Metabolism.
NutrientsPyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio.
International journal of molecular sciencesDaytime-Dependent Effects of Thiamine on the Thiamine Pool and Pyruvate Dehydrogenase Regulation in the Brain and Heart.
International journal of molecular sciencesTarget compartmentalized metabolism to regulate epigenetics.
Trends in endocrinology and metabolism: TEMBlood meal modulates midgut bacterial community structure and metabolic function in Aedes albopictus.
Comparative biochemistry and physiology. Part D, Genomics & proteomicsMitoribosome-Targeting Antibiotics Suppress Osteoclastogenesis and Periodontitis-Induced Bone Loss by Blocking Mitochondrial Protein Synthesis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyAdvances in the therapeutic applications of dichloroacetate as a metabolic regulator: A review.
MedicineVitamin D potentiation of metformin hepatoprotective activities: Concurrent targeting of carbohydrate enzymatic pathways and PCSK9/AGEs-regulated oxidative stress mechanisms in type 2 diabetic male Wistar rats.
SteroidsNovel Visceral Obesity Indicators and Associated Metabolic Fingerprint in Incident Diabetic Retinopathy.
Investigative ophthalmology & visual scienceTargeting Wnt-driven metabolic adaptations in cancer: integrating glycolysis, glutaminolysis, IDO1-mediated immune evasion, and therapeutic delivery strategies.
Frontiers in cell and developmental biologyPotential role of 4-hydroxyisoleucine in enhancing fertility in male mice with diet-induced obesity.
Frontiers in endocrinologyAmino Acid Metabolite Profiling for Predicting and Understanding the Metabolic Effects of Metabolic and Bariatric Surgery.
Journal of metabolic and bariatric surgeryGut Microbiota Dysbiosis Remodels the Lysine Acetylome of the Mouse Cecum in Early Life.
Biology[Mechanisms of puerarin-mediated lipid modulation to enhance glucose-lowering effects via hepatic ChREBP/PPARα/PPARγ in vitro].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaThe bittersweet link between glucose metabolism, cellular microenvironment and viral infection.
VirulenceHyperpolarized-MRI in Hypertrophic Cardiomyopathy: A Narrative Review.
Clinical Medicine Insights. CardiologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença do metabolismo do piruvato.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença do metabolismo do piruvato e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma doença metabólica de origem hereditária que impede o correto processamento do piruvato nas células. Essa deficiência afeta os processos de geração de energia e pode repercutir em múltiplos tecidos do corpo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Doença do metabolismo do piruvato. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-do-metabolismo-do-piruvato
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença do metabolismo do piruvato
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
