A cromatografia gasosa bidimensional abrangente GCxGC é uma técnica descrita originalmente em 1991 pelo professor John B. Phillips e seu aluno Zaiyou Liu. Desde então a GC×GC vem sendo extensivamente aplicada para solucionar problemas complexos de separações. Alguns dos grupos de pesquisa mais bem consolidados no mundo nessa técnica são encontrados na Austrália, Itália, Holanda, Canadá, Estados Unidos e no Brasil.
Introdução
O que você precisa saber de cara
Doença rara que afeta a oxidação de gorduras e produção de cetonas, levando a sintomas como telecanto, baixo peso, atraso no crescimento, hipercetonemia e alterações neurológicas. Pode apresentar odor corporal característico.
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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
+ 135 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 362 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
20 genes identificados com associação a esta condição.
Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway (PubMed:1550553, PubMed:29915090, PubMed:30850536, PubMed:8135828, PubMed:31604922). The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA (PubMed:29915090). Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specific
MitochondrionMitochondrion inner membrane
Mitochondrial trifunctional protein deficiency 1
An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early-onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features.
This enzyme has two activities: FAD diphosphatase activity and FAD synthase activity (PubMed:16643857, PubMed:21924249, PubMed:21951714, PubMed:23443125, PubMed:25135855, PubMed:26277395, PubMed:27259049, PubMed:31351152, PubMed:38688286). FAD diphosphatase acts on FAD and NADH to produce FMN and NMNH(2-), respectively (PubMed:26277395, PubMed:31351152, PubMed:38688286). FAD synthase catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme (PubM
NucleusMitochondrion matrixCytoplasm, cytosol
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.
Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid and choline metabolism as well as mitochondrial electron transportation. In particular, provides FAD to DLD dehydrogenase of the glycine cleavage system, part of mitochondrial one-carbon metabolic pathway involved in neu
Mitochondrion inner membrane
Exercise intolerance, riboflavin-responsive
A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance.
Mediates the electroneutral exchange of acylcarnitines (O-acyl-(R)-carnitine or L-acylcarnitine) of different acyl chain lengths (ranging from O-acetyl-(R)-carnitine to long-chain O-acyl-(R)-carnitines) with free carnitine ((R)-carnitine or L-carnitine) across the mitochondrial inner membrane, via a ping-pong mechanism (Probable) (PubMed:12892634, PubMed:18307102). Key player in the mitochondrial oxidation pathway, it translocates the fatty acids in the form of acylcarnitines into the mitochondr
Mitochondrion inner membrane
Carnitine-acylcarnitine translocase deficiency
A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.
Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion (PubMed:11350182, PubMed:14517221, PubMed:16651524, PubMed:9691089). Also possesses a lysine succinyltransferase activity that can regulate enzymatic activity of substrate proteins such as ENO1 and metabolism independent of its classical carnitine O-palmitoyltransferase ac
Mitochondrion outer membrane
Carnitine palmitoyltransferase 1A deficiency
Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.
Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation (FAO), breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:1970566, PubMed:21237683, PubMed:2251268, PubMed:8823175). The first step of FAO consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physi
Mitochondrion matrix
Acyl-CoA dehydrogenase medium-chain deficiency
An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy.
Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity). Plays a role in the maintenance of normal spermatogenesi
Mitochondrion matrix
3-alpha-hydroxyacyl-CoA dehydrogenase deficiency
An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.
Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among
Mitochondrion matrix
Acyl-CoA dehydrogenase short-chain deficiency
An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults.
Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:20722056, PubMed:33124720). Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 11.3 (PubMed:10454528, PubMed:10525100, PubMed:10966938). In intestinal e
Cell membraneApical cell membraneBasal cell membraneEndoplasmic reticulum
Systemic primary carnitine deficiency
Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.
Catalyzes the first irreversible step in ketogenesis, condensing acetyl-CoA to acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate
Mitochondrion
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly.
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism
Mitochondrion matrixPeroxisome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.
Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol (PubMed:16154994, PubMed:16647063, PubMed:32433613, PubMed:32433614, PubMed:32944968, PubMed:9020103). Plays a role in lipoprotein assembly and dietary cholesterol absorption (PubMed:16154994, PubMed:9020103). Preferentially utilizes oleoyl-CoA ((9Z)-octadecenoyl-CoA) as a substrate: shows a higher activity towards an acyl-CoA substrate with a double bond at the delta-9 position (9Z) th
Endoplasmic reticulum membrane
Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (PubMed:20538056)
Mitochondrion inner membrane
Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced
An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.
Very long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation (FAO), breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:17564966, PubMed:18227065, PubMed:7668252, PubMed:9461620, PubMed:9599005, PubMed:9839948). The first step of FAO consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transf
Mitochondrion inner membrane
Acyl-CoA dehydrogenase very long-chain deficiency
An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.
Key enzyme for ketone body catabolism. Catalyzes the first, rate-limiting step of ketone body utilization in extrahepatic tissues, by transferring coenzyme A (CoA) from a donor thiolester species (succinyl-CoA) to an acceptor carboxylate (acetoacetate), and produces acetoacetyl-CoA. Acetoacetyl-CoA is further metabolized by acetoacetyl-CoA thiolase into two acetyl-CoA molecules which enter the citric acid cycle for energy production (PubMed:10964512). Forms a dimeric enzyme where both of the sub
Mitochondrion
Succinyl-CoA:3-oxoacid CoA transferase deficiency
A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.
Bidirectional proton-coupled monocarboxylate transporter (PubMed:12946269, PubMed:32946811, PubMed:33333023). Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, acetate and the ketone bodies acetoacetate and beta-hydroxybutyrate, and thus contributes to the maintenance of intracellular pH (PubMed:12946269, PubMed:33333023). The transport direction is determined by the proton motive force and the concentration gradient of the substrate mon
Cell membraneBasolateral cell membraneApical cell membrane
Symptomatic deficiency in lactate transport
Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals.
Together with NDUFAF1 and ECSIT, forms part of the mitochondrial complex I (MCIA),which is required for the biogenesis of respiratory Complex I (CI) and is therefore crucial for the activation of the oxidative phosphorylation system (PubMed:20816094, PubMed:24158852, PubMed:32320651, PubMed:38086790). ECSIT binding triggers a large conformational change, switching ACAD9 from a fatty acid oxidation (FAO) enzyme to a CI assembly factor (PubMed:38086790). The function in CI assembly is independent
Mitochondrion inner membrane
Mitochondrial complex I deficiency, nuclear type 20
An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction.
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed:27499296, PubMed:9334218). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabol
Mitochondrion matrix
Glutaric aciduria 2A
An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.
Accepts electrons from ETF and reduces ubiquinone
Mitochondrion inner membrane
Glutaric aciduria 2C
An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:15159392, PubMed:15975918, PubMed:25416781). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP mo
Mitochondrion matrix
Glutaric aciduria 2B
An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.
Variantes genéticas (ClinVar)
436 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
29 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 da oxidação dos ácidos graxos ou da cetogênese
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença da oxidação dos ácidos graxos ou da cetogênese
Centros para Doença da oxidação dos ácidos graxos ou da cetogênese
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.
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Publicações mais relevantes
Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.
Glycogen storage disease type Ia (GSD Ia) is a rare autosomal recessive inherited disorder of carbohydrate metabolism, caused by a deficiency in glucose 6-phosphatase-α (G6PC1). Patients primarily suffer from failure to thrive, hepatomegaly, and severe fasting intolerance, biochemically characterized by hypoketotic, hypoglycemia, and hyperlipidemia. Because of clinical and biochemical heterogeneity, identifying biomarkers is imperative for prognosis and monitoring. An untargeted proteomics workflow was employed for identifying protein changes in liver and plasma from hepatocyte-specific G6pc knockout mice under fed and fasted conditions. This links the effect of hepatic G6Pase/G6pc deficiency to circulating protein biomarkers and allows assessment of the relationship with different clinical circumstances and long-term complications. In the liver, the main differences between hepatic GSD Ia mice versus controls were observed in proteins related to carbohydrate and lipid metabolism, proteasome, ribosome, NAD+ metabolism, and mitochondria. In GSD Ia mouse plasma, proteins were mainly down-regulated in the complement and coagulation cascades. Effects in hepatic GSD Ia mice were in general more pronounced under fasting conditions. Several potential biomarkers that showed significant alterations in both liver and plasma were identified. These include proteins involved in carbohydrate and lipid metabolism (e.g., UGP2, ALDOB, and FASN), complement and coagulation cascades (SERPINA1E, C8b, and MBL2), 20S proteasome subunits (PSMA4, PSMA7, and PSMB5), and the electron transport chain (SDHA). Their consistent changes observed in both the liver and circulation indicate their potential as circulating biomarkers reflecting liver condition. Together with their reported associations with liver diseases, we hypothesize that they could monitor hepatic complications.
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
Long-chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child-bearing age. So far, little is known about the risk and outcome of pregnancies, particularly in women with more severe forms of lcFAODs. We performed an international web-based survey among health care professionals involved in the care of individuals with lcFAODs and collected data on 89 pregnancies in 39 women (mild VLCAD deficiency n = 8, severe VLCAD deficiency n = 10, LCHAD deficiency n = 4, CPT2 deficiency n = 14, CPT1 deficiency n = 3). There were 72 live births, 12 spontaneous miscarriages, and one stillbirth at 41 weeks of gestation. Four women were still pregnant at the time of the survey. In 25 women, the diagnosis was known before the first pregnancy, whereas 14 had at least one pregnancy before diagnosis. Most women remained metabolically stable during pregnancy, although 19% of women had at least one metabolic decompensation during pregnancy. Forty-one percent of babies were delivered by spontaneous vaginal delivery, 33% after induced labor, and 19% by an elective Caesarean section. Most deliveries were uncomplicated, with preventive i.v. glucose infusions given in 50%. However, 21% of mothers developed a metabolic decompensation in the postpartum period. No maternal deaths were reported. In conclusion, our data show that the outcome of pregnancies in lcFAOD patients is generally favorable, despite a significant risk of metabolic decompensation during the postpartum period.
Combined high-fat, high sucrose diet and streptozotocin treatment induces cardiometabolic heart failure with preserved ejection fraction in mice.
Diabetes is associated with an increased incidence of heart failure with preserved ejection fraction (HFpEF), but the underlying mechanisms are poorly understood. A shortage of mouse models reflecting the diverse HFpEF pathophysiology contributes to this inadequate understanding of disease mechanisms. We conducted a comprehensive analysis of a non-genetic, inducible T2DM mouse model with regard to its suitability as preclinical model of cardiometabolic, diabetes-induced HFpEF. T2DM was induced in C57Bl/6-mice by high-fat/high-sucrose diet and low-dose streptozotocin (DIO-STZ). Cardiac function was assessed in vivo by echocardiography and left ventricular catheterization, and in vitro using the isolated perfused heart. Structural, molecular and bioenergetic disturbances were analyzed by immunohistochemistry, RNA-seq, qPCR, westernblot, and extracellular flux analysis of myocardial tissue. Blood glucose, fatty acids and ketone body levels were elevated, and insulin level was reduced in DIO-STZ compared to chow. DIO-STZ mice showed a HFpEF-phenotype with reduced cardiac output, end-diastolic volume, and increased filling pressure. No differences in myocardial fibrosis nor in in vitro stiffness were detected between DIO-STZ and chow. RNA-Seq pointed towards disturbances in lipid and ketone metabolism. Extracellular flux analysis revealed increased fatty acid oxidation capacity without differences in glucose metabolism. No general mitochondrial dysfunction was observed, but a reduced capacity for β-hydroxybutyrate oxidation. The diabetic DIO-STZ mouse model showed a pronounced functional HFpEF phenotype with underlying mechanisms that remarkably differ from other HFpEF models making the DIO-STZ model a relevant extension of the range of HFpEF mouse models, especially for investigating molecular mechanisms or therapeutical interventions in diabetes associated HFpEF.
Nutrient-driven histone acetylation underlies energy storage and mobilization.
In natural settings, energy storage and mobilization maintain a dynamic balance in response to recurrent overfeeding and fasting. Imbalanced energy storage and mobilization lead to a variety of metabolic dysfunctions. However, whether the metabolic status directly couples with epigenetic modifications and transcriptional outputs remains unclear. Here, we aimed to investigate the epigenetic mechanism underlying this adaptive balance and observed that, in an overfeeding state, increased glucose availability is associated with enhanced histone acetylation coinciding with acetyl-CoA production in an acyl-CoA short-chain synthetase 2 (ACSS2)-dependent manner, contributing to energy storage (e.g., lipogenesis); in contrast, in the fasting state, elevated d-β-hydroxybutyrate levels are associated with altered histone acetylation distribution and transcriptional programs, supporting a metabolic shift from anabolism to catabolism, such as fatty acid oxidation. In both overfeeding and fasting states, acetylated lysines in the histone require BRD4 to recognize and initiate transcriptional regulation. Inhibition of BRD4 leads to context-dependent phenotypic effects: it ameliorates non-alcoholic fatty liver disease (NAFLD) pathology induced by a high-fat diet, while it exacerbates hepatic steatosis in fasted mice or mice fed a ketogenic diet. Thus, these findings highlights that epigenetic regulation of energy storage and mobilization is closely linked to the availability of glucose, and ketone bodies. Moreover, our study revealed that modulation of ACSS2-associated pathway may represent a potential strategy for treatment of metabolic diseases, such as NAFLD.
Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.
Glycogen Storage Disease (GSD) Types Ia and Ib are rare metabolic diseases caused by gene variants in G6PC1 and SLC37A4, respectively. Although life-threatening fasting hypoglycemia can be controlled by a strict diet, patients often suffer from multiple metabolic abnormalities and severe long-term complications. However, the underlying mechanisms remain incompletely understood, and there is a lack of effective monitoring biomarkers. Therefore, the aims of this study are to investigate the pathological mechanisms of the disease and disease complications in GSD I and identify potential protein biomarkers. Comprehensive untargeted proteomics was performed on 18 GSD Ia and 8 GSD Ib sera samples from patients with 21 matched control sera, complemented by liver 3 GSD Ia samples and 1 GSD Ib sample from patient liver tissues, compared to 10 donor liver samples. We identified 415 proteins in total. Significantly changed (FDR < 0.05) were observed in 158 (38%) proteins for GSD Ia vs Control, 116 (28%) for GSD Ib vs. Control, and 151 (36%) for GSD Ia vs. Ib. Pathway analysis revealed distinct alterations in serum/plasma, with 58, 32, and 29 significantly changed biological processes (FDR < 0.05) in these three comparisons, respectively. The coagulation pathway was the most significantly changed one in the GSD Ia patients. Immune response-associated proteins, especially immunoglobulins, were increased in GSD Ib specifically. Proteins related to liver injury, cholesterol, and amyloidosis were altered in two subtypes, though more pronounced in GSD Ia. Potential biomarkers with significant alterations both in the circulation and in the liver tissue were identified specifically for monitoring GSD I subtypes and prognosing liver deterioration, namely APOC1 and CD5L to distinguish between GSD Ia and Ib and ALDOB for the presence of hepatocellular carcinoma (HCC) in GSD Ia patients. These findings provide new insights into the differences between the two GSD I subtypes and the pathogenesis of GSD I-related complications, as well as highlighting the potential of protein circulating biomarkers for monitoring complication progression in GSD I and assessing HCC risk in GSD Ia patients. The online version contains supplementary material available at 10.1186/s12967-026-07747-5.
Publicações recentes
Empagliflozin Attenuates Global Cerebral Ischemic Injury After Cardiac Arrest Through Enhancing Ketone Body Oxidative Metabolism in Rats.
Clinical and biochemical footprints of primary mitochondrial disorders: proposed nosology.
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
Impacts of ketogenic diet intervention on cardiometabolic outcomes in obese, dysglycemic mice.
β-Hydroxybutyrate-Induced Ferroptosis Contributes to Hepatic Oxidative Injury in Dairy Cows with Clinical Ketosis.
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Combined high-fat, high sucrose diet and streptozotocin treatment induces cardiometabolic heart failure with preserved ejection fraction in mice.
American journal of physiology. Heart and circulatory physiologyUntargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.
Journal of inherited metabolic diseaseNutrient-driven histone acetylation underlies energy storage and mobilization.
Molecular metabolismProteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.
Journal of translational medicineEmpagliflozin Attenuates Global Cerebral Ischemic Injury After Cardiac Arrest Through Enhancing Ketone Body Oxidative Metabolism in Rats.
Journal of the American Heart AssociationComprehensive Proteomics and β-Hydroxybutyrylation Profiling in Starvation-Induced Gastrocnemius Muscle Remodeling.
BiologyClinical and biochemical footprints of primary mitochondrial disorders: proposed nosology.
Molecular genetics and metabolismβ-Hydroxybutyric Acid Inhibits Mitochondrial Biogenesis via the HDAC2/SIRT7 Signaling Pathway After Intestinal Ischemia-Reperfusion.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyPregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
Journal of inherited metabolic diseaseImpacts of ketogenic diet intervention on cardiometabolic outcomes in obese, dysglycemic mice.
Cardiovascular diabetologyCurrent Understanding of Bovine Ketosis: From Molecular Basis to Farm-Level Management.
Animals : an open access journal from MDPIβ-Hydroxybutyrate-Induced Ferroptosis Contributes to Hepatic Oxidative Injury in Dairy Cows with Clinical Ketosis.
Journal of agricultural and food chemistryβ-Hydroxybutyrate ameliorates lipopolysaccharide-induced liver injury through β-hydroxybutyrylation of the SOD2 protein in mice.
Redox biologyMechanisms of metabolic transition in hypertrophic cardiomyopathy.
Frontiers in physiology"Rewiring brain immunity: targeting microglial metabolism for neuroprotection in neurodegenerative disorders".
Metabolic brain diseaseMetabolomic effects of total flavone of Abelmoschus manihot (L.) medik. on patients with radiation-induced heart disease.
Scientific reportsConcurrent increase in fatty acid oxidation and fatty acid synthesis: a unique metabolic state in a pig model of pediatric steatotic liver disease.
American journal of physiology. Endocrinology and metabolismImpaired mitochondrial ketone body oxidation in insulin resistant states.
EBioMedicineβ-Hydroxybutyrylation Links Ketone Metabolism to Mitochondrial Remodeling in Diabetic Cardiomyopathy.
DiabetesThe ketogenic diet in Parkinson's disease: a potential therapeutic strategy.
Pharmacological reports : PRβ‑hydroxybutyric acid as a potential therapeutic metabolite for type 2 diabetes mellitus (Review).
International journal of molecular medicineP2-HNF4α alters linoleic acid metabolism and mitigates soybean oil-induced obesity: role for oxylipins.
Journal of lipid researchGLP-1 receptor agonists synergistic effects of metabolic reprogramming and cardioprotection.
Frontiers in endocrinologyMinimum Dietary Fat Threshold for Effective Ketogenesis and Obesity Control in Mice.
Nutrientsβ-Hydroxybutyrate enhances malate dehydrogenase 2 β-hydroxybutyrylation to alleviate hepatic steatosis in MASLD.
Cellular and molecular life sciences : CMLSUrinary tetraglucoside excretion as a biomarker in liver glycogen storage diseases.
Molecular genetics and metabolismBreaking the metabolic-inflammatory vicious cycle in polycystic ovary syndrome: a comparative review of ketogenic and high-fat diets.
Lipids in health and diseasePerson-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set.
Genetics in medicine : official journal of the American College of Medical GeneticsThe Ketogenic Diet Through a Metabolomic Lens: Biochemical Pathways, Therapeutic Applications, and Analytical Challenges.
NutrientsHarnessing Metabolism to Combat Neurodegeneration: Strategies for Reversing Age-Related Cognitive Decline.
ACS pharmacology & translational scienceEffect of 3-hydroxyisobutyrate in vivo administration on cardiometabolic disease in ApoE-/- mouse model.
Pharmacological researchKetogenic diet ameliorates MASLD via balancing mitochondrial dynamics and improving mitochondrial dysfunction.
Nutrition & diabetesReprogramming of Mitochondrial and Cellular Energy Metabolism in Fibroblasts and Cardiomyocytes: Mechanisms and Therapeutic Strategies in Cardiac Fibrosis.
Journal of cardiovascular translational researchUnraveling the Translational Relevance of β-Hydroxybutyrate as an Intermediate Metabolite and Signaling Molecule.
International journal of molecular sciencesThe Ketone Body β-Hydroxybutyrate Mitigates the Ferroptosis of Alveolar Epithelial Cells Type II in Bleomycin-Induced Pulmonary Fibrosis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyHepatic Ketogenesis Regulates Lipid Homeostasis via ACSL1-mediated Fatty Acid Partitioning.
Cellular and molecular gastroenterology and hepatologyThe Multifaceted Influence of Beta-Hydroxybutyrate on Autophagy, Mitochondrial Metabolism, and Epigenetic Regulation.
Journal of cellular biochemistryDietary lipids, not ketone body metabolites, influence intestinal tumorigenesis in a ketogenic diet.
bioRxiv : the preprint server for biologySustained Glucose Turnover Flux Distinguishes Cancer Cachexia from Nutrient Limitation.
bioRxiv : the preprint server for biologyState of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres.
Molecular genetics and metabolismEffects of lauric acid on cognitive impairment in a scopolamine-induced Alzheimer's disease-like rat model.
Nutritional neuroscienceKetogenic diet and β-hydroxybutyrate inhibit HDAC1 to preserve vascular smooth muscle cell function in thoracic aortic aneurysm.
Journal of advanced researchState of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases.
Journal of inherited metabolic diseaseKetogenesis mitigates metabolic dysfunction-associated steatotic liver disease through mechanisms that extend beyond fat oxidation.
The Journal of clinical investigationAcute effects of pre-exercise high and low glycaemic index meals and exercise timings on substrate metabolism and appetite in postmenopausal women.
European journal of clinical nutritionIntegrative metabolic profiling of hypothalamus and skeletal muscle in a mouse model of cancer cachexia.
Biochemical and biophysical research communicationsInvestigating the Therapeutic Potential of the Ketogenic Diet in Modulating Neurodegenerative Pathophysiology: An Interdisciplinary Approach.
NutrientsThe Heart Has Intrinsic Ketogenic Capacity that Mediates NAD+ Therapy in HFpEF.
Circulation researchβ-Hydroxybutyrate aggravates LPS-induced inflammatory response in bovine endometrial epithelial cells by activating the oxidative stress/NF-κB signaling pathway.
International immunopharmacologyA complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN).
Metabolism: clinical and experimentalACAA2 Protects Against Cardiac Dysfunction and Lipid Peroxidation in Renal Insufficiency with the Treatment of S-Nitroso-L-Cysteine.
BiomoleculesA Comprehensive Review of Metabolic Dysfunction-Associated Steatotic Liver Disease: Its Mechanistic Development Focusing on Methylglyoxal and Counterbalancing Treatment Strategies.
International journal of molecular sciencesMyocardial ketone body oxidation contributes to empagliflozin-induced improvements in cardiac contractility in murine heart failure.
European journal of heart failureComprehensive Multiomic Analysis Reveals Metabolic Reprogramming Underlying Human Fontan-Associated Liver Disease.
Journal of the American Heart AssociationKetogenic diets and β-hydroxybutyrate in the prevention and treatment of diabetic kidney disease: current progress and future perspectives.
BMC nephrologyD-BHB supplementation before moderate-intensity exercise suppresses lipolysis and selectively blunts exercise-induced long-chain acylcarnitine increase in pilot study of patients with long-chain fatty acid oxidation disorders.
Molecular genetics and metabolismThe Influence of Physical Exercise, Ketogenic Diet, and Time-Restricted Eating on De Novo Lipogenesis: A Narrative Review.
NutrientsImpact of Dapagliflozin on Hepatic Lipid Metabolism and a Dynamic Model of Ketone Body Levels.
The AAPS journalDapagliflozin improves diabetic kidney disease by inhibiting ferroptosis through β-hydroxybutyrate production.
Renal failure[Serum metabolomics reveals effects of standard decoction and formula granules of Paeoniae Radix Rubra on rat model of heat toxin and blood stasis].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaIntermittent fasting and neurodegenerative diseases: Molecular mechanisms and therapeutic potential.
Metabolism: clinical and experimentalMetabolomic Profiling of Open-Angle Glaucoma Etiologic Endotypes: Tohoku Multi-Omics Glaucoma Study.
Investigative ophthalmology & visual scienceIntermittent fasting, fatty acid metabolism reprogramming, and neuroimmuno microenvironment: mechanisms and application prospects.
Frontiers in nutritionTransition from fetal to postnatal state in the heart: Crosstalk between metabolism and regeneration.
Development, growth & differentiationMultifaceted Impact of SGLT2 Inhibitors in Heart Failure Patients: Exploring Diverse Mechanisms of Action.
BiomedicinesSmall Molecules, α-Synuclein Pathology, and the Search for Effective Treatments in Parkinson's Disease.
International journal of molecular sciencesIncreased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome.
Radiology case reportsMaternal ketone supplementation throughout gestation improves neonatal cardiac dysfunction caused by perinatal iron deficiency.
Clinical science (London, England : 1979)Metabolic Crosstalk in Multimorbidity: Identifying Compensatory Effects Among Diabetes, Hypertension, and Dyslipidemia.
Journal of the Endocrine SocietyMetabolic Reprogramming of Astrocytes in Pathological Conditions: Implications for Neurodegenerative Diseases.
International journal of molecular sciencesGlucagon promotes increased hepatic mitochondrial oxidation and pyruvate carboxylase flux in humans with fatty liver disease.
Cell metabolismMultiomics reveals blood differential metabolites and differential genes in the early onset of ketosis in dairy cows.
Genomicsβ-Hydroxybutyrate enhances chondrocyte mitophagy and reduces cartilage degeneration in osteoarthritis via the HCAR2/AMPK/PINK1/Parkin pathway.
Aging cellHistone β-hydroxybutyrylation is critical in reversal of sarcopenia.
Aging cellβ-Hydroxybutyrate Improves the Redox Status, Cytokine Production and Phagocytic Potency of Glucose-Deprived HMC3 Human Microglia-like Cells.
Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune PharmacologyMediterranean ketogenic diet accounts for reduced pain frequency and intensity in patients with chronic migraine: A pilot study.
Clinical nutrition (Edinburgh, Scotland)Beta-Hydroxybutyrate Mitigates Sensorimotor and Cognitive Impairments in a Photothrombosis-Induced Ischemic Stroke in Mice.
International journal of molecular sciencesThe role of lymphatic endothelial cell metabolism in lymphangiogenesis and disease.
Frontiers in cardiovascular medicineGlobal proteomic analyses of lysine acetylation, malonylation, succinylation, and crotonylation in human sperm reveal their involvement in male fertility.
Journal of proteomicsThe interplay between glucose and ketone bodies in neural stem cell metabolism.
Journal of neuroscience researchSystemic inflammation in early lactation and its relation to the cows' oxidative and metabolic status, productive and reproductive performance, and activity.
Journal of dairy scienceThe ketogenic diet does not improve cardiac function and blunts glucose oxidation in ischaemic heart failure.
Cardiovascular researchAdaptive Metabolic Responses Facilitate Blood-Brain Barrier Repair in Ischemic Stroke via BHB-Mediated Epigenetic Modification of ZO-1 Expression.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Hepatic signal transducer and activator of transcription-3 signalling drives early-stage pancreatic cancer cachexia via suppressed ketogenesis.
Journal of cachexia, sarcopenia and muscleA ketogenic diet enhances fluconazole efficacy in murine models of systemic fungal infection.
mBioMolecular mechanisms of metabolic dysregulation in diabetic cardiomyopathy.
Frontiers in cardiovascular medicineEffect of traditional Chinese medicine on metabolism disturbance in ischemic heart diseases.
Journal of ethnopharmacologyStealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism reportsDietary and Metabolic Approaches for Treating Autism Spectrum Disorders, Affective Disorders and Cognitive Impairment Comorbid with Epilepsy: A Review of Clinical and Preclinical Evidence.
NutrientsRelationship between serum β-hydroxybutyrate and hepatic fatty acid oxidation in individuals with obesity and NAFLD.
American journal of physiology. Endocrinology and metabolismExercise-induced β-hydroxybutyrate promotes Treg cell differentiation to ameliorate colitis in mice.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyHepatic glucagon action: beyond glucose mobilization.
Physiological reviewsPre-treatment with β-hydroxybutyrate mitigates cisplatin-induced acute kidney injury.
Biochemical and biophysical research communicationsOXCT1 regulates hippocampal neurogenesis and alleviates cognitive impairment via the Akt/GSK-3β/β-catenin pathway after subarachnoid hemorrhage.
Brain researchThe therapeutic potential of ketones in cardiometabolic disease: impact on heart and skeletal muscle.
American journal of physiology. Cell physiologyMitochondrial fatty acid oxidation is the major source of cardiac adenosine triphosphate production in heart failure with preserved ejection fraction.
Cardiovascular researchSGLT2 inhibitor improves kidney function and morphology by regulating renal metabolism in mice with diabetic kidney disease.
Journal of diabetes and its complications[Ketone Body Metabolism and Renal Diseases].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionDyslipidaemia in Liver Diseases.
Folia biologicaThe changes of cardiac energy metabolism with sodium-glucose transporter 2 inhibitor therapy.
Frontiers in cardiovascular medicineKetogenic diet therapy for pediatric epilepsy is associated with alterations in the human gut microbiome that confer seizure resistance in mice.
Cell reportsKetone bodies mediate alterations in brain energy metabolism and biomarkers of Alzheimer's disease.
Frontiers in neuroscienceClinical and Biochemical Study of Pregnancy Toxemia in Iraqi Ewes.
Archives of Razi Institute[Beneficial effects of ketogenic diet for Alzheimer's disease management].
Biologie aujourd'huiDoes the ketogenic diet improve neurological disorders by influencing gut microbiota? A systematic review.
Nutrition journalChanges in Plasma Pyruvate and TCA Cycle Metabolites upon Increased Hepatic Fatty Acid Oxidation and Ketogenesis in Male Wistar Rats.
International journal of molecular sciencesThe ketone body β-hydroxybutyrate shifts microglial metabolism and suppresses amyloid-β oligomer-induced inflammation in human microglia.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyPreimplantation embryo exposure to ketone bodies exerts sex-specific effects on mouse fetal and placental transcriptomes.
Reproductive biomedicine onlineAstrocyte metabolism and signaling pathways in the CNS.
Frontiers in neuroscienceFrom common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1.
Genes & nutritionPrebiotic effect of poly-D-3-hydroxybutyrate prevents dyslipidemia in obese mice.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyFifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.
Journal of inherited metabolic diseaseMetabolic Biomarkers Differentiate a Surgical Intervertebral Disc from a Nonsurgical Intervertebral Disc.
International journal of molecular sciencesPlasma metabolomics in male primary and functional hypogonadism.
Frontiers in endocrinologyKetone ester supplementation suppresses cardiac inflammation and improves cardiac energetics in a swine model of acute myocardial infarction.
Metabolism: clinical and experimental[The lipidosis of the liver of dairy cows: Part 1 - Role of insulin and the Growth Hormone-IGF-1 axis].
Tierarztliche Praxis. Ausgabe G, Grosstiere/NutztiereBody Weight and Prandial Variation of Plasma Metabolites in Subjects Undergoing Gastric Band-Induced Weight Loss.
Obesity medicineFasting ketone levels vary by age: implications for differentiating physiologic from pathologic ketotic hypoglycemia.
Journal of pediatric endocrinology & metabolism : JPEMKetogenic diet in therapy of bipolar affective disorder - case report and literature review.
Psychiatria polskaKetones and the Heart: Metabolic Principles and Therapeutic Implications.
Circulation researchIn vivo assessment of β-hydroxybutyrate metabolism in mouse brain using deuterium (2 H) MRS.
Magnetic resonance in medicineSerum metabolomics assessment of etiological processes predisposing ketosis in water buffalo during early lactation.
Journal of dairy sciencePersistent fasting lipogenesis links impaired ketogenesis with citrate synthesis in humans with nonalcoholic fatty liver.
The Journal of clinical investigationDefining metabolic migraine with a distinct subgroup of patients with suboptimal inflammatory and metabolic markers.
Scientific reportsMyocardial Metabolomics of Human Heart Failure With Preserved Ejection Fraction.
CirculationRenal and Cardiovascular Metabolic Impact Caused by Ketogenesis of the SGLT2 Inhibitors.
International journal of molecular sciencesKetone Bodies and Cardiovascular Disease: An Alternate Fuel Source to the Rescue.
International journal of molecular sciencesCaprylic acid attenuates amyloid-β proteotoxicity by supplying energy via β-oxidation in an Alzheimer's disease model of the nematode Caenorhabditis elegans.
Nutritional neuroscienceNeutral effect of SGLT2 inhibitors on lipoprotein metabolism: From clinical evidence to molecular mechanisms.
Pharmacological researchβ-Hydroxybutyric acid upregulated by Suhuang antitussive capsule ameliorates cough variant asthma through GSK3β/AMPK-Nrf2 signal axis.
Journal of ethnopharmacologyForsythin inhibits β-hydroxybutyrate-induced oxidative stress in bovine macrophages by regulating p38/ERK, PI3K/Akt, and Nrf2/HO-1 signaling pathways.
Research in veterinary scienceKetone Body β-Hydroxybutyric Acid Ameliorates Dopaminergic Neuron Injury Through Modulating Zinc Finger Protein 36/Acyl-CoA Synthetase Long-Chain Family Member Four Signaling Axis-Mediated Ferroptosis.
NeuroscienceOn the Need to Distinguish between Insulin-Normal and Insulin-Resistant Patients in Testosterone Therapy.
International journal of molecular sciencesLoss of hepatic phosphoenolpyruvate carboxykinase 1 dysregulates metabolic responses to acute exercise but enhances adaptations to exercise training in mice.
American journal of physiology. Endocrinology and metabolismPotential of Capric Acid in Neurological Disorders: An Overview.
Neurochemical researchEvaluation of metabolic and oxidative profile in ovine pregnancy toxemia and to determine their association with diagnosis and prognosis of disease.
Tropical animal health and productionNeuroprotective role of coconut oil for the prevention and treatment of Parkinson's disease: potential mechanisms of action.
Biotechnology & genetic engineering reviewsQuantitative acetylated proteomics on left atrial appendage tissues revealed atrial energy metabolism and contraction status in patients with valvular heart disease with atrial fibrillation.
Frontiers in cardiovascular medicineCircadian clock controls rhythms in ketogenesis by interfering with PPARα transcriptional network.
Proceedings of the National Academy of Sciences of the United States of AmericaRecurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.
JIMD reports1H NMR Metabolite Monitoring during the Differentiation of Human Induced Pluripotent Stem Cells Provides New Insights into the Molecular Events That Regulate Embryonic Chondrogenesis.
International journal of molecular sciencesβ-Hydroxybutyrate and Medium-Chain Fatty Acids are Metabolized by Different Cell Types in Mouse Cerebral Cortex Slices.
Neurochemical researchInvestigating the roles of hyperglycaemia, hyperinsulinaemia and elevated free fatty acids in cardiac function in patients with type 2 diabetes via treatment with insulin compared with empagliflozin: protocol for the HyperCarD2 randomised, crossover trial.
BMJ openβ-Hydroxybutyrate against Cisplatin-Induced acute kidney injury via inhibiting NLRP3 inflammasome and oxidative stress.
International immunopharmacologySkin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
Journal of lipid researchNeonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Molecular genetics and metabolism reportsFerulic Acid Prevents Nonalcoholic Fatty Liver Disease by Promoting Fatty Acid Oxidation and Energy Expenditure in C57BL/6 Mice Fed a High-Fat Diet.
NutrientsApplications of Medium-Chain Triglycerides in Foods.
Frontiers in nutritionReduction of De Novo Lipogenesis Mediates Beneficial Effects of Isoenergetic Diets on Fatty Liver: Mechanistic Insights from the MEDEA Randomized Clinical Trial.
NutrientsGanoderic acid A from Ganoderma lucidum protects against alcoholic liver injury through ameliorating the lipid metabolism and modulating the intestinal microbial composition.
Food & functionCoA in Health and Disease.
International journal of molecular sciencesHypoglycaemia Metabolic Gene Panel Testing.
Frontiers in endocrinologyThe Role of Palmitoleic Acid in Regulating Hepatic Gluconeogenesis through SIRT3 in Obese Mice.
NutrientsSchisandrin B mitigates hepatic steatosis and promotes fatty acid oxidation by inducing autophagy through AMPK/mTOR signaling pathway.
Metabolism: clinical and experimentalAnesthetic management of patients with carnitine deficiency or a defect of the fatty acid β-oxidation pathway: A narrative review.
MedicineKetogenesis acts as an endogenous protective programme to restrain inflammatory macrophage activation during acute pancreatitis.
EBioMedicineWhole Blood Metabolite Profiles Reflect Changes in Energy Metabolism in Heart Failure.
MetabolitesNo effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study.
Journal of inherited metabolic diseaseEfficacy and Safety of Ketone Supplementation or Ketogenic Diets for Alzheimer's Disease: A Mini Review.
Frontiers in nutritionThe mitochondrial β-oxidation enzyme HADHA restrains hepatic glucagon response by promoting β-hydroxybutyrate production.
Nature communicationsA tale of two systems: Lessons learned from female mid-life aging with implications for Alzheimer's prevention & treatment.
Ageing research reviewsKetone bodies: from enemy to friend and guardian angel.
BMC medicineBiochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.
Journal of clinical medicineHepatocyte-specific fibroblast growth factor 21 overexpression ameliorates high-fat diet-induced obesity and liver steatosis in mice.
Laboratory investigation; a journal of technical methods and pathologyβ-hydroxybutyrate as an Anti-Aging Metabolite.
Nutrientsβ-Hydroxybutyrate Exacerbates Hypoxic Injury by Inhibiting HIF-1α-Dependent Glycolysis in Cardiomyocytes-Adding Fuel to the Fire?
Cardiovascular drugs and therapyMetabolic and Signaling Roles of Ketone Bodies in Health and Disease.
Annual review of nutritionCardiac PANK1 deletion exacerbates ventricular dysfunction during pressure overload.
American journal of physiology. Heart and circulatory physiologyAstrocyte metabolism of the medium-chain fatty acids octanoic acid and decanoic acid promotes GABA synthesis in neurons via elevated glutamine supply.
Molecular brainA novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature.
Journal of medical case reportsRNA sequencing reveals niche gene expression effects of beta-hydroxybutyrate in primary myotubes.
Life science allianceIncreased Beta-Hydroxybutyrate Level Is Not Sufficient for the Neuroprotective Effect of Long-Term Ketogenic Diet in an Animal Model of Early Parkinson's Disease. Exploration of Brain and Liver Energy Metabolism Markers.
International journal of molecular sciencesβ-hydroxybutyric acid attenuates oxidative stress and improves markers of mitochondrial function in the HT-22 hippocampal cell line.
Journal of integrative neuroscienceDiscovery of analogues of non-β oxidizable long-chain dicarboxylic fatty acids as dual inhibitors of fatty acids and cholesterol synthesis: Efficacy of lead compound in hyperlipidemic hamsters reveals novel mechanism.
Nutrition, metabolism, and cardiovascular diseases : NMCDAnabolic effects of oral leucine-rich protein with and without β-hydroxybutyrate on muscle protein metabolism in a novel clinical model of systemic inflammation-a randomized crossover trial.
The American journal of clinical nutritionMetabolic Complications in Cardiac Aging.
Frontiers in physiologyKetogenic Diet Suppressed T-Regulatory Cells and Promoted Cardiac Fibrosis via Reducing Mitochondria-Associated Membranes and Inhibiting Mitochondrial Function.
Oxidative medicine and cellular longevityValidation of a Gas Chromatography-Mass Spectrometry Method for the Measurement of the Redox State Metabolic Ratios Lactate/Pyruvate and β-Hydroxybutyrate/Acetoacetate in Biological Samples.
International journal of molecular sciencesBarth syndrome-related cardiomyopathy is associated with a reduction in myocardial glucose oxidation.
American journal of physiology. Heart and circulatory physiologyTowards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International.
Orphanet journal of rare diseasesDevelopment of an Integrated Optical Sensor for Determination of β-Hydroxybutyrate Within the Microplatform.
Applied biochemistry and biotechnologyThe Pharmacokinetics of Triheptanoin and Its Metabolites in Healthy Subjects and Patients With Long-Chain Fatty Acid Oxidation Disorders.
Clinical pharmacology in drug developmentPemafibrate, a novel selective PPARα modulator, attenuates tamoxifen-induced fatty liver disease.
Clinical journal of gastroenterologyThe medium-chain fatty acid decanoic acid reduces oxidative stress levels in neuroblastoma cells.
Scientific reportsEnhanced mitochondrial dysfunction and oxidative stress in the mammary gland of cows with clinical ketosis.
Journal of dairy scienceKetone therapy for heart failure: current evidence for clinical use.
Cardiovascular researchCerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice.
Neurobiology of stressHepatic autophagy and mitophagy status in dairy cows with subclinical and clinical ketosis.
Journal of dairy scienceEffectiveness of ketogenic diet in treatment of patients with refractory chronic migraine.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEffect of the ketogenic diet in excitable tissues.
American journal of physiology. Cell physiologyMetabolic cardio- and reno-protective effects of empagliflozin in a prediabetic rat model.
Journal of physiology and pharmacology : an official journal of the Polish Physiological SocietyTime-restricted feeding combined with aerobic exercise training can prevent weight gain and improve metabolic disorders in mice fed a high-fat diet.
The Journal of physiologyA new ketogenic formulation improves functional outcome and reduces tissue loss following traumatic brain injury in adult mice.
TheranosticsHepatocyte-specific expression of human carboxylesterase 2 attenuates nonalcoholic steatohepatitis in mice.
American journal of physiology. Gastrointestinal and liver physiologyOxidative stress, NF-κB signaling, NLRP3 inflammasome, and caspase apoptotic pathways are activated in mammary gland of ketotic Holstein cows.
Journal of dairy scienceCR reprograms acetyl-CoA metabolism and induces long-chain acyl-CoA dehydrogenase and CrAT expression.
Aging cellβOHB Protective Pathways in Aralar-KO Neurons and Brain: An Alternative to Ketogenic Diet.
The Journal of neuroscience : the official journal of the Society for NeuroscienceDietary Fatty Acid Factors in Alzheimer's Disease: A Review.
Journal of Alzheimer's disease : JADMyocardial Energy Metabolism in Non-ischemic Cardiomyopathy.
Frontiers in physiologyMitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment.
Journal of lipid and atherosclerosisAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.
- Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.
- Combined high-fat, high sucrose diet and streptozotocin treatment induces cardiometabolic heart failure with preserved ejection fraction in mice.
- Nutrient-driven histone acetylation underlies energy storage and mobilization.
- Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.
- Empagliflozin Attenuates Global Cerebral Ischemic Injury After Cardiac Arrest Through Enhancing Ketone Body Oxidative Metabolism in Rats.
- Clinical and biochemical footprints of primary mitochondrial disorders: proposed nosology.
- Impacts of ketogenic diet intervention on cardiometabolic outcomes in obese, dysglycemic mice.
- β-Hydroxybutyrate-Induced Ferroptosis Contributes to Hepatic Oxidative Injury in Dairy Cows with Clinical Ketosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79174(Orphanet)
- MONDO:0019223(MONDO)
- GARD:18954(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788544(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar