Doença rara que afeta o metabolismo da glicose, causando atraso de crescimento, ptose, nefropatia e coma hipoglicêmico. Pode apresentar atividade reduzida da 6-fosfofrutoquinase muscular e nível reduzido de peptídeo C.
Introdução
O que você precisa saber de cara
Visão geral
A alteração da glicólise (termo em inglês: "Disorder of glycolysis") é catalogada sob o identificador MONDO:0017688.[1]
Sinais e sintomas
Os sinais e manifestações clínicas documentados incluem atraso de crescimento, orelhas espessadas, ptose, epicanto, anormalidade regional da pele, nefropatia, nível reduzido de peptídeo C, atividade reduzida da 6-fosfofrutoquinase muscular, artrite, coma hipoglicêmico e cegueira.[1][2]
Também são relatados rigidez muscular induzida por exercício, oligodramnia, hipoplasia renal, hiporreflexia, intolerância ao calor, positividade do anticorpo anti-ácido glutâmico descarboxilase, colelitíase, hipoinsulinemia, crise tônico-clônica bilateral com início focal, apraxia, lesão renal aguda, velocidade de condução nervosa diminuída, positividade de autoanticorpos e glomerulopatia.[1][2]
Causas genéticas
As alterações genéticas associadas envolvem diversos genes e seus respectivos produtos proteicos: GCK (Hexokinase-4), LDHA (L-lactate dehydrogenase A chain), HNF4A (Hepatocyte nuclear factor 4-alpha), ABCC8 (ATP-binding cassette sub-family C member 8), HNF1A (Hepatocyte nuclear factor 1-alpha) e APPL1 (DCC-interacting protein 13-alpha).[1][3]
Outros genes relacionados compreendem PFKM (ATP-dependent 6-phosphofructokinase, muscle type), STAT3 (Signal transducer and activator of transcription 3), LDHB (L-lactate dehydrogenase B chain), PDX1 (Pancreas/duodenum homeobox protein 1), ALDOA (Fructose-bisphosphate aldolase A) e KCNJ11 (ATP-sensitive inward rectifier potassium channel 11).[1][3]
Diagnóstico
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A **alteração da glicólise** é um termo que engloba um grupo de doenças genéticas raras que prejudicam a forma como o organismo processa a glicose para gerar energia. As famílias podem notar sintomas como fraqueza muscular, rigidez ao fazer exercícios, atraso no desenvolvimento ou crises causadas por níveis perigosamente baixos de açúcar no sangue. O diagnóstico costuma ser estabelecido com exames laboratoriais detalhados e testes genéticos que buscam identificar o gene afetado. Esta condição não possui um protocolo clínico específico (PCDT) no Ministério da Saúde, e o acompanhamento visa controlar os sintomas em serviços de referência do SUS.
Doença rara que afeta o metabolismo da glicose, causando atraso de crescimento, ptose, nefropatia e coma hipoglicêmico. Pode apresentar atividade reduzida da 6-fosfofrutoquinase muscular e nível reduzido de peptídeo C.
O que está sendo pesquisado
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
+ 144 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 323 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
28 genes identificados com associação a esta condição.
Glycogen storage disease 11
A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue.
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.
Pyruvate kinase hyperactivity
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
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.
Triosephosphate isomerase deficiency
An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.
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.
Hyperproinsulinemia
An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material.
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.
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.
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.
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 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.
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.
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.
D-lactic aciduria with gout
An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid.
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.
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.
Medicamentos e terapias
Mecanismo: Pyruvate kinase isozymes R/L activator
Variantes genéticas (ClinVar)
1.204 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
77 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 — Alteração da glicólise
Selecione um estado ou use sua localização para ver resultados.
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
Peripheral amylin modulation rebalances brain glycolysis and Tau-Ser214 phosphorylation via cAMP-PKA signaling.
Este estudo mostra que a hipersecreção do hormônio amilina, comum na pré-diabetes, desequilibra o metabolismo cerebral da glicose. Esse excesso de amilina suprime a produção de energia no cérebro (glicólise) e promove alterações nas proteínas Tau, que são marcadores patológicos da doença de Alzheimer (DA), resultando em neuroinflamação e déficits de memória. Para pacientes e médicos, isso significa que a amilina elevada na pré-diabetes pode ser um fator modificável crucial, sugerindo que o manejo adequado dessa condição metabólica pode ajudar a prevenir ou mitigar o risco de desenvolvimento da DA.
🇧🇷 traduzidoTargeting the astrocytic metabolic cascade in Alzheimer's disease: mechanisms, challenges and opportunities.
A doença de Alzheimer (DA) vai além do acúmulo de amiloide e tau, sendo impulsionada por uma grave disfunção no metabolismo energético dos astrócitos (células de suporte do cérebro), que inclui processos essenciais como a glicólise. Essa falha metabólica central compromete o fornecimento de energia aos neurônios, acelerando a degeneração cerebral, a inflamação e o agravamento das outras patologias da DA. Compreender esse "colapso metabólico" nos astrócitos abre novas e promissoras oportunidades para médicos e pesquisadores desenvolverem terapias que visem restaurar a função metabólica e retardar a progressão da doença.
🇧🇷 traduzidoExtracellular matrix stiffness drives cutaneous squamous cell carcinoma malignant progression via YAP-dependent glycolysis.
A rigidez do tecido ao redor do carcinoma espinocelular cutâneo (CECc) está ligada à progressão da doença e a um prognóstico pior. Essa rigidez ativa uma cascata de sinalização que, através da proteína YAP, intensifica a glicólise (o metabolismo do açúcar) nas células tumorais, impulsionando seu crescimento, migração e resistência ao tratamento. No entanto, inibir essa rigidez, a atividade de YAP ou a própria glicólise pode reduzir significativamente o tumor e seus comportamentos malignos, oferecendo novas abordagens terapêuticas para pacientes com CECc.
🇧🇷 traduzidoNeuroprotective response against the onset of ischemic stroke by upregulation of histone H3Y99 sulfation.
Este estudo revela que a sulfatação da histona H3Y99 é um mecanismo protetor cerebral contra o AVC isquêmico, pois estimula a glicólise e o metabolismo para sustentar a sobrevivência celular. Para pacientes e médicos, aumentar essa sulfatação (ex: por suplementação de sulfato) pode reduzir lesões cerebrais e melhorar a recuperação, conforme observado em modelos animais e em pacientes com AVC que apresentaram melhores desfechos com níveis séricos mais altos de sulfato. Isso sugere uma nova abordagem terapêutica para o AVC isquêmico.
🇧🇷 traduzidoHepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.
Este estudo revela que a enzima GAPDH no fígado é crucial para prevenir o acúmulo excessivo de gordura (esteatose hepática) durante o jejum e em dietas cetogênicas. A pesquisa sugere que a deficiência de GAPDH diminui os níveis de serina, um aminoácido que, quando suplementado, inibe a síntese de gordura e reverte a esteatose. Para pacientes e médicos, essa descoberta é relevante pois a suplementação de serina pode ser uma estratégia nutricional para prevenir ou auxiliar no tratamento da esteatose hepática associada a períodos de jejum ou a dietas específicas.
🇧🇷 traduzidoPublicações recentes
Effect of electroacupuncture on postoperative delirium in elderly patients undergoing laparoscopic radical prostatectomy: study protocol for a double-center randomized controlled trial.
Advances in dry eye disease: from immunopathological mechanisms to emerging ophthalmic drug delivery systems.
Acute Suppurative Thyroiditis Caused by Escherichia coli in an Immunocompetent Adult: A Case Report.
Gut microbiome modulation in allergic rhinitis: from current evidence to emerging therapies.
Antiphospholipid Syndrome and Cardiovascular Disease.
📚 EuropePMC2 artigos no totalmostrando 199
Improved serological testing for bovine schistosomiasis in Eastern Africa.
Parasites & vectorsMETTL3-mediated TIGAR m6A modification and its role in microglia activation related to Alzheimer's disease.
NeuroreportLactylation modification - a bridge between sepsis and macrophage metabolic reprogramming.
Frontiers in immunologyFatty acid-related immune network in psoriasis: metabolic regulation of innate and adaptive immunity.
Frontiers in pharmacologyThe MYBL2-GTSE1 axis promotes laryngeal squamous cell carcinoma progression by regulating PI3K/AKT-dependent glycolytic reprogramming.
Cancer biology & therapyDistinct Mechanistic Pathways in Mouse MASLD Models: High-Sucrose/Starch Versus High-Fat, Methionine- and Choline-Deficient Diets.
The Journal of nutritional biochemistryPretreatment volume-based 18F-FDG PET/CT parameters as prognostic indicators in malignant peritoneal mesothelioma patients.
Japanese journal of radiologyRole of KLF4 in Neutrophil Aging in Periodontitis with Metabolic Syndrome.
Journal of dental researchA review of the mechanisms linking Th2 immune storm to NETosis through neutrophil glycolytic activation.
International journal of biological macromoleculesPeripheral amylin modulation rebalances brain glycolysis and Tau-Ser214 phosphorylation via cAMP-PKA signaling.
iScienceTargeting the astrocytic metabolic cascade in Alzheimer's disease: mechanisms, challenges and opportunities.
Frontiers in aging neurosciencePOU1F1 induces cancer stem cell-like traits in breast cancer cells by IL-6/JAK2/STAT3 activation and enrichment of ALDH.
NPJ breast cancerA PD-L1-targeted and lactate-responsive DNA hydrogel enabling Mito-US therapy: dual functions for postsurgical cancer detection and eradication.
BiomaterialsGlycolytic alterations as biomarkers in polycystic kidney disease: A study using a PKD1 knockout model in NRK-52E rat kidney epithelial cells.
Physiological reportsAerobic glycolysis drives differentiation of unilocular adipocytes.
Journal of lipid researchMa Xing Shi Gan Decoction reduces influenza A virus nucleoprotein levels in association with modulation of lactate-HMGB1 lactylation and autophagosome accumulation.
Journal of ethnopharmacologyExtracellular matrix stiffness drives cutaneous squamous cell carcinoma malignant progression via YAP-dependent glycolysis.
Cellular signallingD-lactate Drives Lysine D-lactylation to Regulate Metabolism in Escherichia coli.
The Journal of biological chemistryNeuroprotective response against the onset of ischemic stroke by upregulation of histone H3Y99 sulfation.
Cell reports. MedicineSurgical removal of visceral adipose tissue has therapeutic benefit in male APPNL-F mice.
Frontiers in endocrinologyPIEZO1 regulates smooth muscle cell plasticity by integrating mechanical stretch with glycolytic metabolism.
Cardiovascular researchHepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.
Cell death and differentiationAndrogen receptor localisation and protein interactions provide insight into steroid mediated metabolic shifts in endocrine resistant breast cancer.
NPJ breast cancerOligodendrocyte-encoded lactate dehydrogenase A couples glycolysis to remyelination via protein lactylation.
NeuronSystems Biology of Metabolic Dysregulation in Ankylosing Spondylitis Using scRNA-Seq Data.
Omics : a journal of integrative biologyFerroptosis-driven metabolic reprogramming in macrophages: Reshaping glucose utilization landscapes.
Chinese medical journalImmunometabolic Dysregulation in Psoriasis: Mechanisms Driving Inflammation and Emerging Therapeutic Targets.
Immunological investigationsParaquat induces neuroinflammation through glycolytic reprogramming in microglia: evidence from network toxicology analysis and in vitro experiments.
Chemico-biological interactionsThe telomerase reverse transcriptase-derived peptide GN11 alleviates glycolysis and cellular senescence in the fibrotic kidney by inhibiting the TGF-β1/Smad3/lncRNA Oip5-os1/miR-30c-5p/Rock2 axis.
Biochemical pharmacologyTDP-43 impairs glycolysis by sequestering hexokinase 1 in amyotrophic lateral sclerosis.
Acta neuropathologicaExploratory evaluation of CAP1 and ROCK2 as candidate blood biomarkers for vascular cognitive impairment.
Journal of Alzheimer's disease : JADMitochondrial dysfunction and immune microenvironment in gestational diabetes mellitus: insights from bioinformatics analysis and experimental validation.
Frontiers in immunologyLactate and cognition: a dual modulator.
Frontiers in molecular neuroscienceINSIG1/2 succination mediated by the moonlighting function of ADSL promotes lipogenesis and liver tumorigenesis.
Nature communicationsSympathetic overactivity-induced type H endothelial cell senescence contributes to the impairment of vascularized osteogenesis by PKM2-mediated glycolysis in preclinical stages of Alzheimer's mice.
BoneKNDC1 attenuates fibrosis in nonalcoholic fatty liver disease by inhibiting glycolysis in hepatic stellate cells.
Cellular signallingPyruvate kinase activators in hereditary haemolytic anaemias: current evidence and clinical potential.
Lancet (London, England)IL-33 is Required for Behavioral Deficits in a Murine Model of Systemic Lupus Erythematosus Through Regulation of Microglia Glycolysis.
CNS & neurological disorders drug targetsIntegrating 1H NMR-Based Fecal Metabolomics with Gut Microbiota-Metabolite Correlation Analysis and Network Pharmacology to Explore Anti-Hyperlipidemic Mechanisms of Red Clover in High-Fat Diet-Induced Mice.
Current medicinal chemistryLactate-lactylation axis as an emerging metabolic-epigenetic pathway in diabetic microvascular complications.
Ageing research reviewsScap stabilizes PKM2 to promote glycolysis and enhance anti-fungal immunity in macrophages.
Cell reportsIsoliquiritigenin restores bone homeostasis in osteoporotic rats by enhancing BMSCs osteogenesis via ERK1/2-mTOR-HIF-1α-glycolytic axis and suppressing inflammation.
International immunopharmacologyFocus on Lactate and Lactylation Modification: The Potential Role in Ophthalmic Disease Treatment.
International journal of molecular sciencesRegulation of PKM2 expression and function by GLIS3 during metabolic reprogramming in polycystic kidneys.
Experimental & molecular medicineOverconsumption of fructose aggravates acute GVHD by inducing gut dysbiosis and promoting macrophage-mediated inflammatory response.
Gut microbesPFKFB2-Induced Glycolysis and Ferroptosis in Diabetic Nephropathy by HIF-1α.
Critical reviews in eukaryotic gene expressionDepleting HIF‑1α attenuates the progression of osteosarcoma, but tumorigenicity is sustained through HIF‑independent pathways.
Oncology reportsMolecular mechanism underlying the specific RNA recognition of mitochondrial helicase DDX28 and its critical role in mitoribosomal biogenesis.
Structure (London, England : 1993)USP7 facilitates brain tumor survival upon glucose deprivation by regulating phosphofructokinase muscle-type nuclear translocation in mice.
PLoS biologyNIPAL1 Drives a Metabolic-Epigenetic Feedback Loop to Promote Lactate-Mediated Immune Evasion in Esophageal Cancer.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B.
Open forum infectious diseasesThe spatiotemporal dynamic evolution of post-stroke neuroinflammation: energy metabolism mechanisms of acute response and chronic progression.
Frontiers in pharmacologyMicroglia Dld-K127 lactylation promotes Parkinson's disease via regulating the metabolism of lactate-pyruvate transformation.
Journal of advanced researchThe Transcription Factor TFAP2A Induces M2 Macrophage Polarization by Upregulating EPS8L3 Expression, Thereby Accelerating the Malignant Progression of Pancreatic Ductal Adenocarcinoma.
PancreasGlycosomal 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 BiologyPristimerin ameliorates spasmolytic polypeptide-expressing metaplasia by modulating Cdkn1c (p57)-mediated glycolytic reprogramming.
World journal of gastroenterologyCase Report: Rethinking pulmonary arterial hypertension: immune and metabolic adaptations in a 34-year case of insidious progression.
Frontiers in cardiovascular medicineUntargeted Metabolomic and Lipidomic Profiling in Cystic Fibrosis Patients Using UPLC-QTOF-MS.
Journal of proteome researchCSDE1 Drives Glycolysis and the Progression of Prostate Cancer Through RAC1-Dependent RAS/MAPK Activation.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyBioenergetic Profiling of Lymphocytes in Patients With Visceral Leishmaniasis (VL) and Post Kala-Azar Dermal Leishmaniasis (PKDL).
Parasite immunologyA Unique Intercellular Feedforward Loop From HK1 to TGF-β1 Promotes the Progression of Hepatocellular Carcinoma.
Journal of extracellular vesiclesFNDC4 regulates TGF-β1-induced hepatic stellate cell activation and liver fibrosis via the AMPK/YAP pathway.
Free radical biology & medicineImmunometabolism of IRF4 in Adipose, Muscle, and Immune Cells Influences Obesity and MASLD.
American journal of physiology. Endocrinology and metabolismD-allose suppresses colitis associated carcinogenesis by reversing ER stress in macrophages and inhibiting cancer cell proliferation.
Frontiers in immunologyIn vivo imaging of metabolic heterogeneity across three endpoints relevant to aggressive breast cancer.
PNAS nexusA label-free microLC-SWATH-MS methodology with immunoaffinity depletion of highly abundant serum proteins for quantitative proteomic comparison of fresh-frozen human normal breast tissue and tumor clinical specimens.
Frontiers in molecular biosciencesAPOE4 drives widespread changes to the hepatic proteome and alters metabolic function.
iScienceAstrocyte Bioenergetic Remodeling as a Central Trait of Disrupted Glucocorticoid Signaling: Mechanisms and Implications for Stress Vulnerability.
Journal of neurochemistryPharmacological inhibition of glycolysis at the pyruvate-to-lactate conversion stage mitigates reperfusion injury without aggravating ischemic injury in mouse hearts.
European journal of pharmacologyPiezo1 modulates PFKFB3 during placental neovascularization in preeclampsia via YAP to regulate glycolysis in endothelial progenitor cells.
PlacentamiR-454-3p drives development of hepatic steatosis by negatively regulating JARID2.
Biochemical pharmacologyGlutamine antagonist DON attenuates chikungunya virus-induced myositis by suppressing inflammatory activation in a murine model.
Emerging microbes & infectionsThe role of lactate in retinal health and disease: mechanisms and potential therapeutic strategies. A narrative review.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieSea cucumber peptides alleviate hyperuricemic nephropathy via HIF-1α/NF-κB/STAT3-SIRT1/p300 axis-mediated metabolic and epigenetic modulation.
Food & functionGinsenoside Re regulates PFKFB3-mediated glycolysis to inhibit endothelial cell migration to ameliorate atherosclerosis.
Journal of ginseng researchA small‑molecule HDAC/PDE modulator activates human adipocyte UCP1 and resolves inflammatory signaling.
Journal of translational medicinePMM2 interacts with TRIM28 to recruit E2F4 and promote KIFC3-mediated tumor glycolysis and colorectal cancer progression.
OncogeneL-lactate-driven PSMD14 lactylation and stabilization promote lactate production and ferroptosis resistance via ENO1 in intrahepatic cholangiocarcinoma.
Cancer lettersEffects of metabolic tumor volume and total glycolytic activity on prognosis in oral cavity cancers.
Acta oto-laryngologicaMitochondrial PDHA1 acetylation orchestrates lactate-dependent epigenetic reprogramming to promote fibrosis via NUAK2.
Cellular and molecular life sciences : CMLSPGK1 Lactylation-Driven Self-Reinforcing Loop Orchestrates Glycolytic Reprogramming in FSP1+ Macrophages in Liver Fibrosis.
Research (Washington, D.C.)Gomphus floccosus (Schw.) Sing. extract attenuates alcoholic liver disease by suppressing macrophage glycolysis and M1 polarization.
Frontiers in immunologyMolecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression.
CureusTofacitinib repairs inflammation and mitochondrial dysregulation in GM-CSF-reprogrammed RA macrophages.
Cellular & molecular immunologyAn acetylation-dependent switch underlies host disease tolerance during streptococcal infection.
Scientific reportsTGM2-mediated serotonylation in tumor endothelial cells promotes angiogenesis and tumor growth in colorectal cancer.
Cancer lettersDecoding the metabolic-immune axis for novel therapeutics in bladder cancer.
Biochimica et biophysica acta. Reviews on cancerDihydroartemisinin facilitates intestinal mucosal healing in inflammatory bowel disease by targeting 11βHSD-1 to reprogram macrophage metabolism.
Phytomedicine : international journal of phytotherapy and phytopharmacologyTelitacicept alleviates IgA nephropathy by targeting PDHA1 lactylation to inhibit B cell metabolic reprogramming and lactate-mediated renal injury.
European journal of medical researchPharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.
Nature communicationsWhole-body PET/CT reveals systemic dissemination in spinal tuberculosis: findings from the Spinal TB X cohort.
InfectionALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.
IUBMB lifeKDM6B/Pdk1 glycolytic pathway-driven ZEB2 lactylation promotes cellular cementum formation.
International journal of oral scienceCDK8/CDK19 inhibition restores T-cell homeostasis in primary immune thrombocytopenia.
BloodCombined Expression of hRdCVF and hRdCVFL Through AAV-Mediated Delivery for the Treatment of Retinitis Pigmentosa.
Investigative ophthalmology & visual scienceEffect of PKM2 on M. tuberculosis Rv1987-induced macrophage M2 polarization.
Frontiers in cellular and infection microbiologyMetformin as an immunometabolic modulator in breast cancer: integrating NK and NKT cell responses.
3 BiotechAnalyses of astrocyte-neuron lactate shuttle transporter levels in brain tissues from people with HIV-associated neurocognitive impairment and Alzheimer's disease.
NeuroImmune pharmacology and therapeuticsα-Ketoglutarate protects against cartilage damage via epigenetically driven metabolic reprogramming in osteoarthritis models.
The Journal of clinical investigationRUNDC3A-AS1 is an adverse prognostic factor for triple-negative breast cancer which mediates the Warburg effect and Adriamycin resistance by targeting miR-224-3p/COL5A2.
Toxicology and applied pharmacologyDiscovery of Genes Related to Cuproptosis and Mitophagy to Improve Myocardial Infarction Diagnosis and Treatment.
Current gene therapyBeyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.
Cell death discoveryPyruvate is a natural suppressor of interferon signaling by inducing STAT1 protein pyruvylation.
CellNeonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.
Frontiers in bioscience (Landmark edition)α-synuclein preformed fibrils suppress cell cycle progression and glycolytic flux in glioblastoma cells.
Experimental cell researchTranscriptomic analysis of cells following decreased mitochondrial DNA-copy number reveals compensatory mechanisms in mitochondrial DNA replication and cellular energetics.
Experimental cell researchStage-Dependent Function of Astrocytes in Alzheimer's Disease: A Review.
Neuroscience insightsMyeloid DRP1 Sulfenylation Drives Reparative Macrophage Polarization and Neovascularization in Ischemic Muscle.
bioRxiv : the preprint server for biologyLong-Read Isoform Sequencing Reveals Aroclor1260-Induced Isoform Usage in Mouse Livers.
GenesBody-Wide Glycolytic Shift, Oxidative Stress, and Sex-Specific Effect of Caloric Restriction in a Mouse Model of Alzheimer's Disease.
Antioxidants (Basel, Switzerland)Black Sesame Pigment Ameliorates Non-Alcoholic Fatty Liver Disease via Modulation of the Gut-Liver Axis and HIF-1 Signaling Pathway.
Antioxidants (Basel, Switzerland)α-Ketoglutarate restores redox and energy homeostasis to ameliorate splenic immune dysfunction induced by carbonate-alkaline stress in crucian carp (Carassius auratus).
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biologySpatio-temporal analysis deciphers the energy metabolism disorders in depression based on stable isotope-resolved metabolomics.
Journal of pharmaceutical and biomedical analysisTIGAR deficiency enhances cardiac resilience through epigenetic programming of Parkin expression.
JCI insightChromium(VI) Modulates Macrophage Polarization and Metabolic Reprogramming to Impair Immune Function.
ToxicsHost Serum Biomarker Signatures in Mycobacteriologically Cured Pulmonary Tuberculosis Patients with Persistent Lung Inflammation on 18F-FDG PET/CT.
Diseases (Basel, Switzerland)TCA cycle intermediates as an adjunct strategy for human iPSC-derived cardiomyocyte maturation.
BBA advancesCD4+T cell metabolic reprogramming as therapeutic targets in neurodegenerative diseases.
Molecular brainM2 macrophages promote lymphatic metastasis by regulating PKM2 nuclear translocation in triple-negative breast cancer.
Cell death & diseaseAMPK Deficiency Induces Corneal Epithelial Barrier Dysfunction by Modulating Energy Homeostasis.
Investigative ophthalmology & visual scienceMETTL3 Potentiates Corneal Allograft Rejection via Increased Pro-Inflammatory Cytokine Production and Aerobic Glycolysis.
Investigative ophthalmology & visual scienceFOXO1 Integrates Endothelial Hemodynamic, Inflammatory, and Metabolic Pathways in Atherosclerosis.
Circulation researchEnergetic metabolism-regulatory glycopeptide hydrogel accelerates pressure ulcer wound repair.
Bioactive materialsMulti-omics and causal inference reveal lactylation-based osteoblast regulatory networks and drug candidates.
iScienceMulti-omics-based study on the biological characteristics of kidney renal deficiency and blood stasis in ankylosing spondylitis.
Journal of traditional Chinese medicine = Chung i tsa chih ying wen panEnolase 1 suppresses influenza A virus replication by blocking the nuclear import of the viral ribonucleoprotein complex.
Cellular and molecular life sciences : CMLSLemon balm-derived nanovesicles restore mitochondrial function and reduce cytokine production in skin fibroblasts under pro-inflammatory conditions.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesLack of PCK1 in hepatic stellate cells causes liver fibrosis by fueling tricarboxylic acid cycle and increasing glycolysis.
Cell metabolismSingle-cell transcriptomics reveals phenotypic and functional alterations of erythroid progenitor cells in tuberculosis patients.
Tuberculosis (Edinburgh, Scotland)Lipophagy in chronic obstructive pulmonary disease: Mechanistic insights and emerging therapeutic targets.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieCyanidin-3-O-glucoside promotes late-stage venous thrombus resolution in mice, accompanied by reduced macrophage M1-associated inflammation and attenuated HIF-1α-linked signaling.
Food & functionmtDNA leakage promotes neuron-glia crosstalk to induce epilepsy by cGAS-STING-driven neuroinflammation and serine metabolic reprogramming.
Proceedings of the National Academy of Sciences of the United States of AmericaRepair of Corneal Epithelial Defects.
Progress in molecular and subcellular biologyPCMTD1-127aa suppresses osteosarcoma progression by competitively binding to USP10 to promote c-MYC degradation.
iScienceLactate-induced miR-7-5p/TRIM33 reprograms metabolic flux to suppress tumor growth and viral reactivation.
Molecular therapy : the journal of the American Society of Gene TherapyPFKP binding AMOTL1 promotes tumor aerobic glycolysis and epithelial-mesenchymal transition by modulating Hippo pathway in head and neck cancer.
Journal of translational internal medicineANGPTL8 accelerates bone loss in diabetic mice by promoting osteoclastic differentiation and inhibiting osteoblastic differentiation through AMPK pathway-mediated metabolic reprogramming.
Cellular and molecular life sciences : CMLSImmunotherapy in triple-negative breast cancer: From molecular mechanisms to precision medicine-overcoming resistance and optimizing clinical outcomes.
Critical reviews in oncology/hematologyCinnamaldehyde inhibits the progression of gastric cancer by regulating glycolysis through PTP1B/PI3K/AKT/mTOR signaling pathway.
Toxicology and applied pharmacologyRed blood cells serve as a primary glucose sink to improve glucose tolerance at altitude.
Cell metabolismDistinct gut microbiota signatures in white leghorn and silky fowl are associated with divergent laying performance.
Poultry scienceSimvastatin Targets PKM2 to Alter Metabolic Reprogramming in Hepatic Stellate Cells and Mitigate Liver Fibrosis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyAnoctamin 5 mutation leads to abnormal bone homeostasis of GDD by regulating AMPK-dependent glucose metabolism.
Frontiers in endocrinologyDietary chromium picolinate-promoted oxidative phosphorylation may be a potential mean to improve hypoxia tolerance of juvenile grass carp (Ctenopharyngodon idella).
Animal nutrition (Zhongguo xu mu shou yi xue hui)Roles of immune cell metabolism in rheumatoid arthritis.
Frontiers in immunologyRestoring NAD⁺-Sirtuins Signaling: A Novel Approach to Combat Male Reproductive Aging.
The world journal of men's healthStructural characterization of glycolytic enzymes from Trypanosoma cruzi.
Molecular and biochemical parasitologyThe glycolytic enzyme PFKM promotes renal fibrosis by activating the NF-κB pathway via lactate-mediated H3K18 lactylation.
Cellular and molecular life sciences : CMLSCircadian-rhythm-based dynamics of the secretome in molecular subtypes of pancreatic ductal adenocarcinoma.
Expert review of proteomicsAdenosine-Specific Transcriptional Programs in Murine Connective Tissue-Type Mast Cells.
ACS pharmacology & translational scienceMetabolic interactions in the brain: the crucial roles of neurons, astrocytes, and microglia in health and disease.
Frontiers in neuroscienceTriptolide from Tripterygium wilfordii Suppresses Glycolysis and Induces Cuproptosis via the HK2/DLAT Signaling Pathway in Colorectal Cancer.
The American journal of Chinese medicineGlycolysis and NLRP3 inflammasome activation in diseases.
European journal of medical researchTargeting the SIN1 mediated TTK/LDHA-H3K18la-GLUT3 axis disrupts metabolic-epigenetic crosstalk and suppresses progression in hyperglycolytic breast cancer.
Cancer lettersDisrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy.
Science advancesMitochondrial Metabolism in Neutrophils: Emerging Roles in Inflammatory Skin Diseases.
The British journal of dermatologyDistinct prognostic value of [18F]FDG PET and [68Ga]Ga-PSMA-11 PET in advanced hormone-sensitive prostate cancer.
Communications medicineβ-Catenin-Facilitated Glycolytic Reprogramming Fuels TNBC Progression: Therapeutic Blockade with XAV939.
Technology in cancer research & treatmentEp300-mediated acetylation plasticity in the acetyl-CoA metabolic network drives the protective role of intensive lifestyle intervention in visceral white adipose tissue.
Cell communication and signaling : CCSHypoxia-induced circ_0017521 enhances glycolysis and promotes NSCLC progression via upregulating the PFKFB3/PI3K-AKT pathway.
Mammalian genome : official journal of the International Mammalian Genome SocietyPKM2 Promotes Glycolysis in Alveolar Macrophages and Induces Inflammation in Bronchopulmonary Dysplasia.
InflammationSpatial profiling of the metabolism-immune axis in ovarian cancer.
Frontiers in pharmacologyHistone H4K8 lactylation promotes glioblastoma progression by inducing NUPR1-mediated autophagosome‒lysosome fusion.
TheranosticsDelactylase effects of SIRT3 on a positive feedback loop involving the RUNX1-glycolysis-histone lactylation in diabetic kidney disease.
International journal of biological sciencesNeoepitopes at the crossroads of immunometabolism: metabolic remodeling of antigen presentation in type 1 diabetes.
Frontiers in immunologyEnhanced CHI3L1 promotes macrophage activation in persistent inflammatory events of ulcerative interstitial cystitis.
Frontiers in immunologyIntegrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis.
Frontiers in immunologyDysregulated Lipid and Protein Networks in Osteochondrosis.
Journal of proteome researchMetabolism in Tumour-Induced Bone Disease.
Current osteoporosis reportsPaeonol inhibits the progression of endometrial cancer by affecting TRIM26-mediated LDHA ubiquitination modification.
Tissue & cellENO2 and BPTF axis drives tumor progression and macrophage polarization in T2DM-associated colorectal cancer.
Pathology, research and practiceLactate 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)A peptide drug targeting SASH1-PKM2 interaction promotes recovery of traumatic brain injury in mice.
Brain researchTopical ionic liquid-mediated GLUT1 gene editing ameliorates psoriasis and prevents recurrence.
BiomaterialsFASN-mediated metabolic reprogramming drives CD4+ T cell hyperactivation in Sjögren's syndrome via fatty acid oxidation-dependent oxidative phosphorylation.
Arthritis research & therapyImmunometabolism Reframes Alzheimer's Disease: From Systemic Dysmetabolism to Glial Rewiring.
Cellular and molecular neurobiologySpatiotemporal transcriptomic profiling reveals upregulation of glycolysis pathway genes before overt tauopathy in the PS19 mouse model.
Experimental & molecular medicineUSP30-mediated Deubiquitination of Hexokinase 2 controls the metabolic fate of glucose and tumor progression.
Cell death & diseaseSaquinavir induces pyroptosis through the OTUD5-JAK1-GSDME axis in hepatocellular carcinoma.
Free radical biology & medicineADARB1 inhibits glycolysis and progression of cervical cancer through the HMGB1/PFKFB3 axis.
Biochimica et biophysica acta. Molecular basis of diseaseSTARD10 regulates human pancreatic β cell differentiation and triglyceride metabolism.
Stem cell reportsIntegrative metabolomics and lipidomics reveal Jian-Pi-Yi-Shen formula improves adenine-induced CKD rats by regulating intrarenal glycolipid metabolism.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesYiqi Daozhi Formula Reduces the M1 Polarization of Macrophages in Mice With Postoperative Ileus Through Mediating Glycolysis Metabolism.
Immunity, inflammation and diseaseMulti-Organ Transcriptomic Analysis of Greater Amberjack (Seriola dumerili) with Different Growth Rates.
Animals : an open access journal from MDPIHistone lactylation leads to perioperative neurocognitive disorders by promoting the expression of Ralbp1 and inducing excessive mitochondrial fission in hippocampal neurons.
Cellular and molecular life sciences : CMLSCUL4A promotes glycolytic metabolism of fibroblast-like synoviocytes by targeting FGF2 in rheumatoid arthritis.
Biochemical pharmacologyComprehensive Proteomics and β-Hydroxybutyrylation Profiling in Starvation-Induced Gastrocnemius Muscle Remodeling.
BiologyTissues Guide Dependence of Treg on the Transferrin Receptor.
bioRxiv : the preprint server for biologyFrogs uncouple neural activity from oxygen consumption after hibernation.
bioRxiv : the preprint server for biologyRole of lactylation modification in regulating lytic cell death.
Frontiers in oncologyThe metabolic consequences of evoked spreading depolarization in brain slices.
Scientific reportsPredictive and prognostic value of a glucose metabolism disorder and immune-related gene signature in glioma.
NeuroscienceM6A demethylase FTO in leukemia: Function, molecular mechanisms, and therapeutic implications.
Pathology, research and practiceRegulatory mechanisms and targeted therapeutic strategies of glycolytic metabolism in rheumatoid arthritis.
Autoimmunity reviewsSemaglutide ameliorates osteoarthritis progression through a weight loss-independent metabolic restoration mechanism.
Cell metabolismSrc-mediated PHB2 phosphorylation disrupts mitochondrial cristae through cardiolipin dissociation in hepatocellular carcinoma.
Redox biologyMetabolic surgery mitigates early kidney injury in obese youth with diabetes by suppressing mTORC1/JAK-STAT signaling.
The Journal of clinical investigationDysregulation of Farnesoid X Receptor on Neutrophil Homeostasis Exacerbates Intestinal Inflammation via the mTORC1-Glycolysis Signaling Pathway.
MedCommAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Alteração da glicólise.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Alteração da glicólise 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
A condição é causada por mutações genéticas que prejudicam enzimas essenciais para a quebra da glicose, como GCK, PFKM, ALDOA, LDHA e LDHB. Genes reguladores como HNF1A, HNF4A, PDX1, ABCC8 e KCNJ11 também estão envolvidos nas diferentes formas clínicas do grupo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
4 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 5 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. (2026). Alteração da glicólise. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/alteracao-da-glicolise
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Alteração da glicólise
📋 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
- Moléculas estudadas na doença
- fonte: OpenTargets
