Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo das pentoses
ORPHA:79186CID-11 · 5C51.0DOENÇA RARA

Peroxissoma (português de Portugal), Peroxissomo (português do Brasil) é um organelo envolvido por uma membrana (conhecido antigamente como microcorpo) e presente no citoplasma de quase todas as células eucarióticas. São organelos com atividade de síntese e decomposição de peróxido de hidrogénio, tendo esta caraterística dado o nome a estes organelos. Frequentemente, o oxigénio molecular é necessário para a atividade catalítica de muitas enzimas do organelo, a partir do qual, o peróxido de hidrogénio (H2O2) é formado (substância altamente tóxica para a célula). Nos peroxissomas, por meio da enzima catalase, o H2O2 é convertido em oxigénio molecular (O2) e água (H2O). Os peroxissomas desempenham papéis-chave no metabolismo lípidico e na conversão de espécies reativas de oxigénio.

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Introdução

O que você precisa saber de cara

📋

Doença rara do metabolismo das pentoses, associada a defeitos cardíacos (septos atriais), hipertensão portal, disfunções hepáticas (colestase, hepatite) e renais, além de características craniofaciais como macrocefalia e fontanelas amplas.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
17 sintomas
🫃
Digestivo
13 sintomas
🫘
Rins
10 sintomas
🦴
Ossos e articulações
8 sintomas
🩸
Sangue
7 sintomas
❤️
Coração
6 sintomas

+ 50 sintomas em outras categorias

Características mais comuns

Defeito do septo atrial
Hipertensão portal
Testa alta
Doença hepática colestática
Macrocefalia
Fontanelas grandes
135sintomas
Sem dados (135)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 135 características clínicas mais associadas, ordenadas por frequência.

Defeito do septo atrialAtrial septal defect
Hipertensão portalPortal hypertension
Testa altaHigh forehead
Doença hepática colestáticaCholestatic liver disease
MacrocefaliaMacrocephaly

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025152 papers
Linha do tempo
2024Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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

6 genes identificados com associação a esta condição.

RPIARibose-5-phosphate isomeraseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate and participates in the first step of the non-oxidative branch of the pentose phosphate pathway

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Pentose phosphate pathway
MECANISMO DE DOENÇA

Ribose 5-phosphate isomerase deficiency

An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
69.7 TPM
Esôfago - Mucosa
35.0 TPM
Fibroblastos
34.2 TPM
Baço
33.5 TPM
Tecido adiposo
32.7 TPM
OUTRAS DOENÇAS (1)
ribose-5-P isomerase deficiency
HGNC:10297UniProt:P49247
G6PDGlucose-6-phosphate 1-dehydrogenaseDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis. Also catalyzes the conversion of NAADPH, which is produced by enzymes such as DUOX1, DUOX2 and NOX5 from NAADP and promotes Ca(2+) signaling during T cell activation, back to NAADP (PubMed:34784249)

LOCALIZAÇÃO

Cytoplasm, cytosolMembrane

VIAS BIOLÓGICAS (3)
Pentose phosphate pathwayTP53 Regulates Metabolic GenesNFE2L2 regulates pentose phosphate pathway genes
MECANISMO DE DOENÇA

Anemia, congenital, non-spherocytic hemolytic, 1

An X-linked disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
146.0 TPM
Sangue
132.1 TPM
Fibroblastos
113.8 TPM
Bladder
80.0 TPM
Pituitária
78.2 TPM
OUTRAS DOENÇAS (2)
anemia, nonspherocytic hemolytic, due to G6PD deficiencymalaria, susceptibility to
HGNC:4057UniProt:P11413
SHPKSedoheptulokinaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a modulator of macrophage activation through control of glucose metabolism

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
Pentose phosphate pathway
MECANISMO DE DOENÇA

Sedoheptulokinase deficiency

An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
24.4 TPM
Nervo tibial
23.9 TPM
Skin Sun Exposed Lower leg
18.7 TPM
Cervix Endocervix
18.6 TPM
Ovário
18.4 TPM
OUTRAS DOENÇAS (1)
isolated sedoheptulokinase deficiency
HGNC:1492UniProt:Q9UHJ6
DCXRL-xylulose reductaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose (PubMed:11882650, PubMed:19337691, PubMed:40737316). Can use both NAD and NADP as cosubstrate but shows higher activity with NADP (PubMed:11882650). Participates in the uronate cycle of glucose metabolism (PubMed:11882650). May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing os

LOCALIZAÇÃO

Apical cell membraneCytoplasmic vesicle, secretory vesicle, acrosome

VIAS BIOLÓGICAS (1)
Formation of xylulose-5-phosphate
MECANISMO DE DOENÇA

Pentosuria

An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
801.9 TPM
Próstata
216.0 TPM
Cérebro - Hemisfério cerebelar
162.1 TPM
Cerebelo
156.1 TPM
Estômago
147.7 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (1)
pentosuria
HGNC:18985UniProt:Q7Z4W1
TKTDiscoidin domain-containing receptor 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as a cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
Insulin effects increased synthesis of Xylulose-5-PhosphatePentose phosphate pathwayNFE2L2 regulates pentose phosphate pathway genes
MECANISMO DE DOENÇA

Spondyloepimetaphyseal dysplasia, short limb-hand type

A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
521.7 TPM
Fibroblastos
237.5 TPM
Esôfago - Mucosa
235.4 TPM
Tireoide
217.1 TPM
Bladder
215.1 TPM
OUTRAS DOENÇAS (1)
transketolase deficiency
HGNC:11834UniProt:Q16832
TALDO1TransaldolaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the rate-limiting step of the non-oxidative phase in the pentose phosphate pathway. Catalyzes the reversible conversion of sedheptulose-7-phosphate and D-glyceraldehyde 3-phosphate into erythrose-4-phosphate and beta-D-fructose 6-phosphate (PubMed:18687684, PubMed:8955144). Not only acts as a pentose phosphate pathway enzyme, but also affects other metabolite pathways by altering its subcellular localization between the nucleus and the cytoplasm (By similarity)

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (4)
Pentose phosphate pathwayInsulin effects increased synthesis of Xylulose-5-PhosphateNFE2L2 regulates pentose phosphate pathway genesGene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
MECANISMO DE DOENÇA

Transaldolase deficiency

An inborn error of the pentose phosphate pathway resulting in early-onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
623.9 TPM
Esôfago - Mucosa
403.8 TPM
Fibroblastos
229.9 TPM
Tireoide
228.9 TPM
Baço
224.4 TPM
OUTRAS DOENÇAS (1)
transaldolase deficiency
HGNC:11559UniProt:P37837

Variantes genéticas (ClinVar)

639 variantes patogênicas registradas no ClinVar.

🧬 RPIA: GRCh37/hg19 2p11.2-q11.2(chr2:85898497-97671333)x3 ()
🧬 RPIA: NM_144563.3(RPIA):c.738+3G>T ()
🧬 RPIA: NM_144563.3(RPIA):c.93G>T (p.Gly31=) ()
🧬 RPIA: NM_144563.3(RPIA):c.837A>T (p.Pro279=) ()
🧬 RPIA: NM_144563.3(RPIA):c.679C>T (p.Arg227Ter) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença do metabolismo das pentoses

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo das pentoses

Centros para Doença do metabolismo das pentoses

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

Timeline de publicações
0 papers (10 anos)
#1

Pentose phosphate pathway fuels cGAS-STING signalling to boost function of intratumoral conventional dendritic cells.

Nature communications2026 Mar 23

Tumors employ diverse mechanisms to impair conventional dendritic cell (cDC) function within the tumor microenvironment, yet the underlying processes remain unclear. Here, we demonstrate that pentose phosphate pathway (PPP) reduction in late-stage intratumoral cDCs compromises their function. Both pharmacological and genetic inhibition of the PPP attenuate cDC-mediated antitumor responses. Conversely, PPP augmentation restores late-stage intratumoral cDC antitumor capacity. PPP deficiency in cDCs enhances the immune checkpoint PD-L1 expression level, and combining cDC-specific PPP potentiation with immune checkpoint blockade synergistically enhances immunotherapy efficacy. Mechanistically, PPP activation fuels purine metabolism, thereby increasing ATP and GTP levels required for 2'3'-cGAMP synthesis, ultimately promoting cGAS-STING signaling and STING-dependent cDC antitumor responses. The PPP is associated with STING-dependent cDC activities in tumor tissues from female patients with breast cancer. Collectively, our findings establish PPP as an intrinsic metabolic checkpoint in STING-mediated cDC antitumor immunity, and suggest targeting PPP in cDCs as a promising cancer immunotherapy strategy.

#2

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances.

Cell death discovery2026 Mar 23

Deficiency of adenosine deaminase 2 (DADA2) causes a complex phenotype of autoinflammation and immunodeficiency. Bone marrow failure is often refractory to treatment with tumour necrosis factor-alpha (TNF-alpha) inhibitors and additional treatment options are needed. However, the pathomechanisms underlying the disease remain incompletely understood. The aim of this study was to examine the viability and metabolic profile of ADA2-deficient cells and to characterise the activity of different cell death pathways to advance the mechanistic understanding of DADA2. By flow cytometry and western blot, we showed that ADA2-/- U-937 cells and PBMCs from DADA2 patients showed significantly elevated levels of cell death compared with cells expressing wild-type ADA2. Viability of ADA2-deficient cells was not improved by inhibitors of apoptosis, necroptosis, pyroptosis and ferroptosis. Blocking of TNF-alpha, type I interferon and STING signalling as well as reintroduction of wild-type ADA2 protein did not rescue the cell death phenotype in vitro. ADA2-deficient cells had an aberrant morphology with increased cell size and granularity and were impaired in their proliferative capacity. To identify the cause of the impaired viability, we performed 13C glucose tracer metabolomics experiments which revealed disturbances in the pentose phosphate pathway of ADA2-deficient cells. This tended to be associated with increased exposure to intracellular reactive oxygen species that was attenuated in the PBMCs of a DADA2 patient measured after successful hematopoietic stem cell transplantation. Collectively, our findings established increased levels of cell death as a possible pathomechanism of DADA2 and showed that the absence of ADA2 leads to an impairment of the pentose phosphate pathway which may account for the cellular vulnerability of ADA2-deficient cells.

#3

Hippocampal energy metabolism reprogramming underlies individual differences in paroxetine-facilitated contextual fear extinction.

Behavioural brain research2026 May 28

Individual variability in response to selective serotonin reuptake inhibitors (SSRIs) remains a major challenge in the treatment of anxiety-related disorders. Impaired fear extinction is a core feature of stress-related psychopathologies. Although chronic SSRI administration has been shown to enhance fear extinction, the biological basis underlying differential treatment responsiveness is poorly understood. In the present study, we examined hippocampal molecular alterations associated with divergent behavioral responses to chronic paroxetine treatment in a contextual fear extinction paradigm. Based on freezing behavior during the extinction retention test, paroxetine-treated rats were stratified into high- and low-response subgroups. Data-independent acquisition-based proteomics revealed pronounced alterations in pathways related to synaptic function, mitochondrial processes, and metabolic regulation in the hippocampus of paroxetine high responders. Subsequent targeted metabolite quantification further implicated multiple energy-related pathways, including the pentose phosphate pathway, purine metabolism, and the tricarboxylic acid cycle, as metabolic features associated with divergent contextual fear extinction phenotypes, accompanied by altered levels of pathway-specific metabolites. These results suggest that adaptive hippocampal energy metabolism reprogramming may support divergent fear extinction phenotypes following chronic paroxetine treatment, providing mechanistic insight into differential treatment effects in fear-related disorders.

#4

Plasma and Brain Metabolomics Uncover Modulation of Bile Acid and Pentose Phosphate Pathways by Melissa officinalis in Obese Rat Model.

International journal of molecular sciences2026 Mar 04

While our group previously demonstrated the calming effects of Melissa officinalis extract (MOE) in dogs, the underlying brain-level mechanisms remain unclear. To address this, we investigated these mechanisms in rats using an untargeted metabolomics approach. Twenty-four male Wistar rats were divided into three groups (eight rats per group): control (standard diet, SD), a group fed a high-fat high-sucrose diet (HFHSD), and HFHSD administrated with a hydro-alcoholic standardized MOE (HFHSD MOE) at a dose of 200 mg/kg. Body weight, behavior through elevated plus maze (EPM), and glucose tolerance using the oral glucose tolerance test (OGTT) were monitored. After 12 weeks of supplementation, plasma and brain metabolomes were explored using non-targeted metabolomics. Although the EPM revealed no significant behavioral improvement, the OGTT showed a significant reduction in blood glucose area under the curve (AUC, p < 0.05), suggesting a metabolic effect of MOE. Metabolomic analysis highlighted two key pathways: (1) bile acid biosynthesis in plasma, as previously observed in our dog study, and (2) pentose phosphate metabolism in the brain. These results provide insight into central and peripheral mechanisms influenced by MOE and generate hypotheses on pathways potentially linked to previously reported behavioral effects in dogs, offering targets for nutritional interventions.

#5

Long-Term Follow-Up of Patients With Transaldolase Deficiency.

Journal of inherited metabolic disease2026 Mar

Transaldolase (TALDO) deficiency has a well-characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients. We retrospectively collected data on 16 patients followed for up to 20 years. Liver involvement was present in all patients, with six presenting liver failure at birth. During long-term follow-up, 10 patients developed cirrhosis and four underwent liver transplantation (LTx). Two patients died from severe liver failure in the first months of life; persistent weight below 4 kg precluded LTx. A third patient died from posttransplant complications at 6 months of life. Five patients developed chronic kidney failure, and in two of them kidney transplantation was considered after the age of 20 years. Patent foramen ovale (PFO) was the most frequent cardiac finding; cardiomyopathy or ventricular dysfunction was diagnosed in five patients. Twelve patients developed chronic cytopenia, all presenting with thrombocytopenia. Hypergonadotropic hypogonadism was found in seven patients; two others developed secondary adrenal cortisol insufficiency and primary hypothyroidism requiring replacement therapy. Mild neurocognitive delay was observed only in a few cases. We described different patterns of liver disease progression. Transplantation should be early considered if indicated for liver insufficiency; in the most severe patients with neonatal onset, achieving sufficient weight for transplantation may be challenging. Our preliminary data suggest that, in older patients, kidney involvement may also warrant consideration of kidney transplantation, which was not previously described for this disease.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Pentose phosphate pathway fuels cGAS-STING signalling to boost function of intratumoral conventional dendritic cells.

Nature communications
2026

Diabetes associated pericyte metabolic signatures and pathogenesis of diabetic retinopathy.

Frontiers in endocrinology
2026

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances.

Cell death discovery
2026

Ferroptosis-driven metabolic reprogramming in macrophages: Reshaping glucose utilization landscapes.

Chinese medical journal
2026

Hippocampal energy metabolism reprogramming underlies individual differences in paroxetine-facilitated contextual fear extinction.

Behavioural brain research
2026

Plasma and Brain Metabolomics Uncover Modulation of Bile Acid and Pentose Phosphate Pathways by Melissa officinalis in Obese Rat Model.

International journal of molecular sciences
2026

Metabolite Erythritol in 24-H Urine Is Associated With Higher Intrahepatic Lipid Content: The Maastricht Study.

Diabetes
2026

Sex-Dependent Metabolic Alterations in Red Blood Cells During COVID-19.

Biology
2026

Long-Term Follow-Up of Patients With Transaldolase Deficiency.

Journal of inherited metabolic disease
2026

Roseburia inulinivorans increases muscle strength.

Gut
2026

Transaldolase deficiency - natural disease course towards adulthood.

Molecular genetics and metabolism
2026

Transcriptomic signatures predict severe linezolid-induced peripheral neuropathy and reveal pre-treatment immune and antioxidant dysregulation.

Tuberculosis (Edinburgh, Scotland)
2026

Neonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.

Frontiers in bioscience (Landmark edition)
2026

Law-NQO1 redox boosts the pentose phosphate pathway to confer stem-like properties and antitumor durability in effector CD8+ T cells.

Cell chemical biology
2026

Identification of shared gene signature between lung cancer and postoperative delirium by transcriptome data analysis.

Medicine
2026

Synergistic regulation of SLC7A11 and glucose-6-phosphate dehydrogenase in redox homeostasis governs decidualization: a mechanistic insight into adenomyosis-related infertility.

Journal of advanced research
2026

Reduced cyclin D3 expression in erythroid cells protects against malaria.

Nature
2026

Integrated hepatic transcriptome and metabolome reveal the mechanisms of Jiangtang Tiaozhi formula on improving glycolipid metabolic disorder.

World journal of diabetes
2026

Computational discovery and prioritization of ribose-5-phosphate isomerase A as a mitochondrial target for reversing senescence in mesenchymal stem cells.

International journal of biological macromolecules
2026

Integrative 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 sciences
2026

Metabolic reprogramming and immunosenescence: a new sight for glioma therapy.

Frontiers in cell and developmental biology
2026

D-ribose-induced cytotoxicity in K562 cells: RBKS-dependent disruption of copper homeostasis and mitochondrial function.

Free radical biology &amp; medicine
2026

Insulin Resistance Compromises the Pentose Phosphate Pathway and Impairs Left Ventricular Assist Device-Mediated Myocardial Recovery in Obese Patients with Heart Failure.

Circulation
2026

Cuproptosis promotes inflammatory osteolysis via GYS1-mediated glycogen metabolism.

International journal of oral science
2025

(p)ppGpp mediates persister formation in Escherichia coli during glucose to fatty acid shift.

Frontiers in microbiology
2025

Wilson's disease-associated gut dysbiosis: novel insights into microbial functional alterations, virulence changes, and resistance markers.

Frontiers in microbiology
2026

Pentose phosphate pathway regulates oxidative damage and apoptosis of chondrocytes induced by fluoride.

Ecotoxicology and environmental safety
2026

Metabolic Reprogramming by Andrographolide: Enhanced Pentose Phosphate Pathway and Antioxidant Capacity in Cortical Astrocytes.

Pharmaceuticals (Basel, Switzerland)
2026

Metabolic dysregulation in follicular fluid is associated with adverse reproductive outcomes in women with decreased ovarian reserve.

Journal of ovarian research
2026

PFKFB4-Mediated HSPB1 phosphorylation suppresses ferroptosis to Promote gastric cancer progression.

Biochemical pharmacology
2026

Multi-omics dissection of metabolic hijacking: Infectious bronchitis virus orchestrates lipid-centric replication through PPAR-TGF-β crosstalk.

Virulence
2026

First genome sequence of a European Alternaria brassicae isolate and genes involved in early development of alternaria leaf spot on Brassica juncea.

Pest management science
2026

Metabolic Alterations Induced by a Seizure-Causing Sodium Channel Mutation and their Partial Normalization by Dietary α-Linolenic Acid in Drosophila.

Neurochemical research
2026

Comprehensive metabolic profiling across five lifespan stages in murine hippocampus and cortex reveals sex-related variation in age-related cognitive decline.

Communications biology
2026

Control of renal central carbon metabolism by heme oxygenase-1.

iScience
2025

Multiomic Analyses Reveal Brainstem Metabolic Changes in a Mouse Model of Dravet Syndrome.

Cells
2026

Post-irradiation dietary restriction impairs hematopoiesis via inhibition of the pentose phosphate pathway in hematopoietic stem and progenitor cells.

Cell death &amp; disease
2025

Macrophage polarization: molecular mechanisms, disease implications, and targeted therapeutic strategies.

Frontiers in immunology
2025

Hepatocyte-Specific ApoJ Knockout Improves Metabolic Profiles in the Liver of Diabetic Mice.

Metabolites
2025

Multi-omics reveals FAT10 as an immunometabolic survival factor rewiring global metabolism in cancer.

Cell communication and signaling : CCS
2025

Hyperinflammation by Human Macrophages Induced by SARS-CoV-2 Anti-Spike IgG Is Dependent on Glucose and Fatty Acid Metabolism.

European journal of immunology
2026

A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Fibroblast pentose phosphate pathway activation upon decreased circPLCE1 exacerbates intestinal fibrosis in Crohn's disease.

Gut
2026

Yishen Qianggu Mixture formulation suppresses osteometabolic inflammation by modulating the IL-17/NF-κB/MAPK signaling axis.

Journal of ethnopharmacology
2026

Dependence of Mycoplasma bovis on a novel nucleoside transporter for survival in association with host cells.

Applied and environmental microbiology
2025

The Functionality of the Cysteinyl Leukotriene Receptor 1 (CysLTR1) in the Lung by Metabolomics Analysis of Bronchoalveolar Lavage Fluid.

Research square
2025

Targeting the pentose phosphate pathway mitigates graft-versus-host disease by rewiring alloreactive T cell metabolism.

JCI insight
2026

Vacuum fractional distillation enhances the antibacterial activity of Mentha haplocalyx essential oil against Xanthomonas citri subsp. citri by disrupting cell membrane and inhibiting biofilm.

Pesticide biochemistry and physiology
2026

Retinoic Acid Receptor-related Orphan Receptor α Drives Glucose Reprogramming and Mitochondrial Rescue Mitigate Subarachnoid Hemorrhage-Induced Early Brain Injury.

Antioxidants &amp; redox signaling
2026

Impaired metabolic cooperation between oocyte and granulosa cells may contribute to the disrupted folliculogenesis and poor oocyte quality in PCOS.

Life sciences
2025

Plexin C1 modulates metabolic programming for resolution of severe inflammation.

Cell communication and signaling : CCS
2025

Effects of a Gain-of-Function Mutation in the Voltage-Gated Sodium Channel Gene, and of Dietary α-Linolenic Acid Supplementation, on Whole-Body Metabolism in Drosophila.

Research square
2026

Metabolic and epigenetic abnormalities cause hepatic fibrogenesis in metabolic dysfunction-associated steatohepatitis model mice.

The Journal of biological chemistry
2025

Mapping the oxidative stress metabolome in neurology by gas chromatography-mass spectrometry: a systematic review on signature-driven diagnosis and disease monitoring.

Redox biology
2025

Residues of the ribose binding site are required for human ribokinase activity.

Journal of structural biology: X
2025

The denitrosylase SCoR2 controls cardioprotective metabolic reprogramming.

eLife
2026

Cold plasma reduces the incidence of Botrytis cinerea infection in grape fruit by affecting the energy status and respiratory metabolism.

Plant physiology and biochemistry : PPB
2025

Metabolic remodeling and cardiac dysfunction in left ventricular noncompaction: Insights from the MYH7 Q315R model.

PloS one
2025

Uridine-sensitized screening identifies demethoxy-coenzyme Q and NUDT5 as regulators of nucleotide synthesis.

Nature metabolism
2025

Probiotic modulation of energy metabolism ameliorates experimental autoimmune encephalomyelitis via Nrf2-associated pentose phosphate pathway activation.

Biochemical and biophysical research communications
2025

Development of Cellular Energy Metabolism During Differentiation of Human iPSCs into Cortical Neurons.

Molecular neurobiology
2025

High-Fructose Corn Syrup on Inflammation and Cancer.

World journal of oncology
2025

NFATc1-mediated activation of the pentose phosphate pathway and cell cycle dysregulation collectively drive tumor progression.

Oncogenesis
2025

Function and therapeutic potential of transketolase enzymes in parasitic protists.

Methods in enzymology
2025

Transketolase in metabolic diseases, autoimmune diseases and cancer.

Methods in enzymology
2025

Electrochemical screening as a tool for identification of transketolase inhibitors.

Methods in enzymology
2025

[Multi-omics reveals the inhibition mechanism of Bacillus velezensis DJ1 against Fusarium graminearum].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2025

The role of the pentose phosphate pathway in the development of metabolic disorders in the testes during rat intoxication with cypermethrin.

Reproductive toxicology (Elmsford, N.Y.)
2025

Glucose Metabolic Reprogramming of Macrophages Against Mycobacterium tuberculosis Infection.

ImmunoTargets and therapy
2025

Transaldolase 1 impacts Parkinson's disease pathogenesis via metabolic reprogramming and autophagy-lysosomal pathway.

Acta neuropathologica communications
2025

Metabolic reprogramming in ischemic stroke: when glycolytic overdrive meets lipid storm.

Cell death &amp; disease
2025

Comparative transcriptomics of naturally susceptible and resistant Trypanosoma cruzi strains in response to Benznidazole.

International journal for parasitology. Drugs and drug resistance
2026

Development and evaluation of a 3D-engineered neural co-culture system: Impacts on oxidative stress, pentose phosphate pathway, trace element and mineral metabolisms.

Journal of neuroscience methods
2025

G6PD deficiency in brain induces schizophrenia-like behaviors and synaptic dysfunction.

Translational psychiatry
2026

Oleanolic acid combats Streptococcus iniae via cell membrane damage and oxidative stress, transcriptomic and phenotypic analysis.

Microbial pathogenesis
2025

African swine fever virus hijacks host pyrimidine metabolism to promote viral replication.

Journal of virology
2025

Phthalates exposure as a risk factor for gestational diabetes mellitus: Integrated evidence from epidemiological and human liver organoids studies.

Ecotoxicology and environmental safety
2025

Metabolic profile alterations in juvenile rats with bladder overactivity induced by short-term high-fructose intake.

PeerJ
2026

Association between Serum Glycerol-3-Phosphate and Fibroblast Growth Factor-23 in Nondiabetic Patients on Hemodialysis.

Clinical journal of the American Society of Nephrology : CJASN
2025

Predictors of Fasting Endogenous Erythritol and Erythronate Concentrations in Humans: Cross-Sectional and Post-Bariatric Surgery Analyses.

International journal of molecular sciences
2025

Reprogrammed glucose metabolism in vascular smooth muscle cells and its implications for vascular diseases.

Pharmacological research
2025

The brown fat-enriched exosomal miR-206-3p attenuates hepatic lipogenesis by decreasing pentose phosphate pathway.

Life metabolism
2025

Preclinical Evaluation of a Novel Molecule Targeting Nucleoside Homeostasis to Restore Energy Metabolism and Cognitive Function in Alzheimer's Disease.

Pharmacology research &amp; perspectives
2025

The Role of the Pentose Phosphate Pathway in Cardiovascular Diseases.

Cardiovascular drugs and therapy
2025

Multiomics investigation of the female hypertensive human heart.

Physiological reports
2025

Characterizing tuberculous meningitis in a South African pediatric cohort using GCxGC-TOFMS metabolomics.

Medical microbiology and immunology
2025

Disorders of Redox Homeostasis and Its Importance in Acrolein Toxicity.

International journal of molecular sciences
2025

Tracking micro- and nanoplastics in Aedes albopictus: From ingestion to metabolic disruption.

The Science of the total environment
2026

Massage therapy modulates energy metabolism and alleviates skeletal muscle spasms in rats.

Tissue &amp; cell
2025

Suppressions of fruit spoilage and disease occurrence in postharvest longan by acidic electrolyzed-oxidizing water treatment through adjusting respiratory metabolism and energy state.

Plant physiology and biochemistry : PPB
2025

PYGM Protects Against Myocardial Infarction by Enhancing Glycogenolysis and Facilitating Autophagic Flux.

Circulation
2025

Metabolic shifts in murine inner ears mimicking erythrocytes and plasma reveal diagnostics and early predictors for age-related hearing loss.

iScience
2025

Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.

Blood reviews
2025

GhSTZ-Mediated Suppression of Metabolic-Immune Coordination Compromises Cotton Defense Against Verticillium Wilt.

Plants (Basel, Switzerland)
2025

Chitosan Oligosaccharide Attenuates Neuroinflammation by Regulating Microglial Immunometabolic Reprogramming via the mTOR Signaling Pathway.

Journal of agricultural and food chemistry
2025

Effects of aging and anti-aging dietary restriction on regulators of the [NADPH]/[NADP+] in different neural cell types and brain regions.

Free radical biology &amp; medicine
2025

Increased Exercise Tolerance in G6PD African Variant Mice Driven by Metabolic Adaptations and Erythrophagocytosis.

Antioxidants (Basel, Switzerland)
2025

Application of Multiplatform Mass Spectrometry to the Study of Babesia divergens Metabolism and the Pathogenesis of Human Babesiosis.

International journal of molecular sciences
2025

Activation of CISD2 as a protective strategy against doxorubicin-induced cardiotoxicity.

Redox biology
2025

Oxidized phosphatidylcholines activate NOX1-mediated oxidative stress response and shift glucose metabolism in cardiac cells.

American journal of physiology. Cell physiology
2025

Mitochondrial dysfunction and metabolic reprogramming in acute kidney injury: mechanisms, therapeutic advances, and clinical challenges.

Frontiers in physiology
2025

Benzoylpaeoniflorin alleviates ulcerative colitis by inhibiting ferroptosis through targeting phosphogluconic dehydrogenase.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Andrographolide modulates glucose metabolism in visceral adipose tissue in an Alzheimer's disease obese mouse model.

The Journal of biological chemistry
2025

Gut-organ axis is more fragmented in ulcerative colitis: a metaproteomics study.

Journal of applied microbiology
2025

Effects of long-distance transport on glycolipid metabolism and immune function in simmental calves.

Molecular immunology
2025

MacroD1 sustains mitochondrial integrity and oxidative metabolism.

Nature communications
2025

Metabolome analysis and functional characterization reveals that d-gluconic acid contributes to pine defence against Bursaphelenchus xylophilus infection.

Pest management science
2025

Metabolic divergence between healthy and conditional presenilin-1/2 knockout dementia model mice under chronic nicotine exposure.

Journal of Alzheimer's disease : JAD
2025

ROS-dependent localization of glycolytic enzymes to mitochondria.

Redox biology
2025

Soluble guanylate cyclase stimulation improves cardiac function and mitochondrial activity in a rat model of early-stage heart failure with preserved ejection fraction.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Melatonin Modulates Glucose Metabolism Reprogramming via Targeting G6PD to Alleviate Lead-Induced Hepatocytes Pyroptosis in Common Carp (Cyprinus carpio L.).

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

The miR-122/P53/TIGAR signaling axis regulates glucose metabolic reprogramming induced by polystyrene nanoplastic particles.

Journal of hazardous materials
2025

Transcriptome combined single-cell sequencing explores molecular mechanisms of ANGPTL4 in sepsis-induced acute lung injury.

PloS one
2025

Transcriptome Analysis and CFEM Gene Overexpression in Metschnikowia bicuspidata Under Hemocyte and Iron Ion Stress.

Pathogens (Basel, Switzerland)
2025

IL-1β-Mediated Immunometabolic Adaptation in Corneal Epithelial Cells.

Journal of inflammation research
2025

A trade-off between stress resistance and tolerance underlies the adaptive response to hydrogen peroxide.

Cell systems
2026

Jiedu Quyu Ziyin prescription alleviated renal injury in MRL/lpr by inhibiting PPP-mediated oxidative stress through regulating p53/G6PD/NOX pathway.

Journal of ethnopharmacology
2025

Mitochondrial Calcium Uniporter Regulates Metabolic Remodeling and Smooth Muscle Cell Proliferation in Type 2 Diabetes.

Journal of the American Heart Association
2025

Characterization of hyperoxia-induced senescent lung macrophages in neonatal mice.

bioRxiv : the preprint server for biology
2025

Integrative Constraint-Based Modeling and Proteomics Uncover Astrocytic Metabolic Adaptations to the Post-TBI Microenvironment.

International journal of molecular sciences
2025

Global transcriptome characterization of peripheral blood mononuclear cells in individuals with chronic HIV infection.

Genomics
2025

Colon cancer cells evade drug action by enhancing drug metabolism.

Oncogene
2025

The non-metabolic function of 6PGD coordinates CCNA2 and HMGA2 expression to drive colorectal cancer progression and drug response.

Journal of experimental &amp; clinical cancer research : CR
2025

Metabolome integrated with transcriptome, and genome analysis revealed higher accumulations of phytoalexins enhance resistance against Magnaporthe oryzae in new Zhefang rice variety diantun 506.

BMC plant biology
2025

Metabolic reprogramming during ineffective erythropoiesis in β-thalassemia/HbE disease.

Experimental and molecular pathology
2025

Integrated proteomics and transcriptomics analysis reveals key regulatory genes between ER-positive/PR-positive and ER-positive/PR-negative breast cancer.

BMC cancer
2025

Neuronal glycogen breakdown mitigates tauopathy via pentose-phosphate-pathway-mediated oxidative stress reduction.

Nature metabolism
2025

Live fast, die young: neutrophils streamline their metabolism to maximize inflammation.

Infection and immunity
2025

Ovatodiolide alleviates renal fibrosis through regulating metabolic reprogramming via targeting glucose-6-phosphate dehydrogenase.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Therapeutic potential of NRF2 activating drug RTA-408 in suppressing T cell effector responses and inflammatory bowel disease.

Journal of immunology (Baltimore, Md. : 1950)
2025

Effects of organic selenium on metabolic responses and disease resistance in rose plants.

Journal of hazardous materials
2025

Astragaloside's Role in Microglial Neuroinflammation: A Multi-Method Study Combining Experimental and Computational Analyses.

Neurochemical research
2025

Single cell sequencing and spatial multiomics of diabetic kidney segmentation insights zonation-specific therapeutic metabolic pathways.

Cell insight
2025

The immunoproteasome disturbs neuronal metabolism and drives neurodegeneration in multiple sclerosis.

Cell
2025

TKT regulates the pentose phosphate pathway via RBKS to promote epithelial-mesenchymal transition during AML progression.

Journal of bioenergetics and biomembranes
2025

The crucial role of metabolic reprogramming in driving macrophage conversion in kidney disease.

Cellular &amp; molecular biology letters
2025

Adenine-induced kidney disease alters the cortical bone metabolome of C57BL/6J mice in a manner that depends on sex.

bioRxiv : the preprint server for biology
2025

An Overview of Oligodendrocyte Metabolism.

Advances in neurobiology
2025

Pentose phosphate pathway inhibition metabolically reprograms CD8+ T cells and disrupts CNS autoimmunity.

JCI insight
2025

Advanced Microbiome Therapeutics Accelerate MASLD Recovery by Restoring Intestinal Microbiota Equilibrium and the Gut-Liver Axis in a Mouse Model.

Journal of agricultural and food chemistry
2025

Mitochondria-centred metabolomic map of inclusion body myositis: sex-specific alterations in central carbon metabolism.

Annals of the rheumatic diseases
2025

Gut microbiota and its influence on the Gut-Brain axis in comparison with chemotherapy patients and cancer-free control data in Breast cancer-A computational perspective.

PloS one
2025

D-Glucose and its derivatives labeled with radioactive carbon and hydrogen: key tools for investigating biological processes and molecular mechanisms.

EJNMMI radiopharmacy and chemistry
2025

Bacillus licheniformis Alleviates Clostridium perfringens-Induced Intestinal Injury in Mice Model by Modulating Inflammation, Apoptosis, and Cecal Microbial-Metabolic Responses.

Animals : an open access journal from MDPI
2025

Exploring the mechanism of action of aspirin in improving endometrial receptivity in PCOS rats based on uterine lavage fluid metabolomics.

PloS one
2025

Metabolomic Profiling of Aqueous Humor From Glaucoma Patients Identifies Metabolites With Anti-Inflammatory and Neuroprotective Potential in Mice.

Investigative ophthalmology &amp; visual science
2025

Macrophage immunometabolism dysregulation and inflammatory disorders.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Antidepressant effect of Radix bupleuri - Radix paeoniae alba herb pair on chronic unpredictable mild stress rats based on cortical metabolomics.

BMC complementary medicine and therapies
2025

Effect of xylitol on low‑density lipoprotein‑stimulated oxidative stress in THP‑1 cells.

Molecular medicine reports
2025

Failed Metabolic Adaptation to Stress Underlies Pathogenesis in a Heterozygous Genetic Disorder.

bioRxiv : the preprint server for biology
2025

A promising strategy to disrupt Plasmodium falciparum metabolic resilience by targeting G6PD: Virtual screening for potential inhibitors against malaria.

Computational biology and chemistry
2025

Inflammation via JAK-STAT/HIF-1α Drives Metabolic Changes in Pentose Phosphate Pathway and Glycolysis That Support Aortic Valve Cell Calcification.

Arteriosclerosis, thrombosis, and vascular biology
2025

Systems analysis unravels a common rural-urban gradient in immunological profile, function, and metabolic dependencies.

Science advances
2025

Solute Carrier Family 35 A2 (SLC35A2) Promotes Tumor Progression through MYC-Mediated Pathways in Colorectal Cancer.

International journal of medical sciences
2025

Cross-Species Multi-Omics Analysis Reveals Myeloid-Driven Endothelial Oxidative Stress in Ischemic Stroke.

Frontiers in bioscience (Landmark edition)
2025

Rebalancing redox homeostasis: A pivotal regulator of the cGAS-STING pathway in autoimmune diseases.

Autoimmunity reviews
2025

Untargeted metabolomics revealed that quercetin improves rat renal metabolic disorders induced by chronic unpredictable mild stress.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Pleural fluid proteomics from patients with pleural infection shows signatures of diverse neutrophilic responses: The Oxford Pleural Infection Endotyping Study (TORPIDS-2).

The European respiratory journal
2025

The role of transketolase in the immunotherapy and prognosis of hepatocellular carcinoma: a multi-omics approach.

Frontiers in immunology
2025

Identification of Shared Pathways and Molecules Between Type 2 Diabetes and Lung Adenocarcinoma and the Impact of High Glucose Environment on Lung Adenocarcinoma.

International journal of endocrinology
2025

Genetic susceptibility to recurrent vulvovaginal candidiasis in an African population from Nairobi, Kenya.

Scientific reports
2025

Analyzing the causal relationship between gut microbiotas, blood metabolites, and COVID-19 susceptibility: A Mendelian randomization study.

Medicine
2025

Metabolic Atlas of Early Human Cortex Identifies Regulators of Cell Fate Transitions.

bioRxiv : the preprint server for biology
2025

Decoding microglial immunometabolism: a new frontier in Alzheimer's disease research.

Molecular neurodegeneration
2025

Metabolomics in Parkinson's Disease and Correlation with Disease State.

Metabolites
2025

Metabolic pathways in deep vein thrombosis: a new frontier for therapeutic intervention.

Blood
2025

Foxk1 and Foxk2 promote cardiomyocyte proliferation and heart regeneration.

Nature communications
2025

Enterovirus A71-induced glycolysis is essential for viral replication by activating PI3K/Akt pathway.

Microbial pathogenesis
2025

Effects of antidiabetic drugs on the level of serum uric acid in patients who have type 2 diabetes.

Saudi medical journal
2025

Unspliced XBP1 enhences metabolic reprogramming in colorectal cancer cells by interfering with the mitochondrial localization of MGME1.

Biochemical and biophysical research communications
2025

Cutaneous granulomas: mechanisms, cellular interactions and therapeutic insights.

The British journal of dermatology
2025

Pseudonatural Flavonols as Novel Copper Ionophores for NAFLD Intervention via Synergistic Copper Delivery and Flavonoid Activity.

Journal of medicinal chemistry
2025

Differential effects of high-fat diet on salivary and gut microbiota.

Frontiers in cellular and infection microbiology
2025

Glucose protects cultured retinal cells from oxidative injury via the pentose phosphate pathway.

Free radical biology &amp; medicine
2025

α-Ketoglutarate modulates the mechanisms of toxicity in crucian carp kidneys chronically exposed to NaHCO3: Metabolomics insights.

Comparative biochemistry and physiology. Part D, Genomics &amp; proteomics
2025

Acute hypoxia modulate macrophage phenotype accompanied with transcriptome re-programming and metabolic re-modeling.

Frontiers in immunology
2025

Metabolic reprogramming in hepatocellular carcinoma: mechanisms and therapeutic implications.

Experimental &amp; molecular medicine
2025

Synergistic effects of infectious haematopoietic necrosis virus and Flavobacterium psychrophilum co-infection on the mortality and pathophysiology of masu salmon parr Oncorhynchus masou.

Journal of fish biology
2025

TIGAR plays neuroprotective roles in MPP+/MPTP-induced Parkinson's disease by alleviating ferroptosis.

European journal of pharmacology
2025

Cell type-specific regulation of the pentose phosphate pathway during development and metabolic stress-driven autoimmune diseases: Relevance for inflammatory liver, renal, endocrine, cardiovascular and neurobehavioral comorbidities, carcinogenesis, and aging.

Autoimmunity reviews
2025

Comprehensive analysis of circRNAs and lncRNAs involvement in the development of skeletal muscle in myostatin-deficient rabbits.

Animal biotechnology
2025

Successful Liver Transplantation in a Pediatric Patient With Transaldolase Deficiency.

Pediatric transplantation
2025

Efficient Conversion of Nicotinamide Mononucleotide Based on Elucidation of the Limitations in Multienzyme Cascade Reactions.

Biotechnology journal
2025

Glucose Metabolic Reprogramming in Microglia: Implications for Neurodegenerative Diseases and Targeted Therapy.

Molecular neurobiology
2025

Integrated metabolomics and transcriptomics reveal the potential of hydroxy-alpha-sanshool in alleviating insulin resistance.

Molecular medicine (Cambridge, Mass.)
2025

Multi-tissue metabolomics reveal mtDNA- and diet-specific metabolite profiles in a mouse model of cardiometabolic disease.

Redox biology
2025

Untargeted metabolomics unveils critical metabolic signatures in novel phenotypes of acute ischemic stroke.

Metabolic brain disease
2025

Parkinson's disease and glucose metabolism impairment.

Translational neurodegeneration
2025

Metabolite pathway alterations identified by magnetic resonance metabolomics in a proximal tubular epithelial cell line treated with TGF-β1.

Physiological reports
2025

Alcohol Reprograms Placental Glucose and Lipid Metabolism, Which Correlate with Reduced Fetal Brain but not Body Weight in a Mouse Model of Prenatal Alcohol Exposure.

The Journal of nutrition
2025

In vivo metabolic effects of naringin in reducing oxidative stress and protecting the vascular endothelium in dyslipidemic mice.

The Journal of nutritional biochemistry
2025

Apabetalone alleviates ligature-induced periodontitis by inhibiting M1 macrophage polarization via an immunometabolic shift.

International immunopharmacology
2025

[Study on anti-depression effect of Suanzaoren Decoction based on liver metabolomics].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

An approach for psoriasis of microneedle patch simultaneously targeting multiple inflammatory cytokines and relapse related T cells.

Biomaterials
2024

Brain network and energy imbalance in Parkinson's disease: linking ATP reduction and α-synuclein pathology.

Frontiers in molecular neuroscience
2025

O-GlcNAcylation attenuates ischemia-reperfusion-induced pulmonary epithelial cell ferroptosis via the Nrf2/G6PDH pathway.

BMC biology
2025

A BRAF-activated noncoding RNA attenuates clear cell renal cell carcinoma via repression of glucose-6-phosphate dehydrogenase.

The Journal of biological chemistry
2025

Transcriptome Sequencing Reveals Effects of Artificial Feed Domestication on Intestinal Performance and Gene Expression of Carnivorous Mandarin Fish (Siniperca chuatsi) and Related Mechanisms.

Marine biotechnology (New York, N.Y.)
2025

Glucose-6-phosphate dehydrogenase regulates mitophagy by maintaining PINK1 stability.

Life metabolism

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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.

  1. Pentose phosphate pathway fuels cGAS-STING signalling to boost function of intratumoral conventional dendritic cells.
    Nature communications· 2026· PMID 41872210mais citado
  2. ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances.
    Cell death discovery· 2026· PMID 41866403mais citado
  3. Hippocampal energy metabolism reprogramming underlies individual differences in paroxetine-facilitated contextual fear extinction.
    Behavioural brain research· 2026· PMID 41839375mais citado
  4. Plasma and Brain Metabolomics Uncover Modulation of Bile Acid and Pentose Phosphate Pathways by Melissa officinalis in Obese Rat Model.
    International journal of molecular sciences· 2026· PMID 41828608mais citado
  5. Long-Term Follow-Up of Patients With Transaldolase Deficiency.
    Journal of inherited metabolic disease· 2026· PMID 41823103mais citado
  6. Diabetes associated pericyte metabolic signatures and pathogenesis of diabetic retinopathy.
    Front Endocrinol (Lausanne)· 2026· PMID 41869040recente
  7. Neonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.
    Front Biosci (Landmark Ed)· 2026· PMID 41761973recente
  8. Law-NQO1 redox boosts the pentose phosphate pathway to confer stem-like properties and antitumor durability in effector CD8(+) T cells.
    Cell Chem Biol· 2026· PMID 41747723recente
  9. Identification of shared gene signature between lung cancer and postoperative delirium by transcriptome data analysis.
    Medicine (Baltimore)· 2026· PMID 41731751recente

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Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79186(Orphanet)
  2. MONDO:0019231(MONDO)
  3. GARD:18962(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788553(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.

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Doença do metabolismo das pentoses
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Doença do metabolismo das pentoses

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