É uma doença metabólica hereditária causada por uma alteração no metabolismo da ornitina.
Introdução
O que você precisa saber de cara
É uma doença metabólica hereditária causada por uma alteração no metabolismo da ornitina.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 55 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 172 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine
MitochondrionMitochondrion matrix
Cutis laxa, autosomal recessive, 3A
A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate
Mitochondrion matrix
Hyperornithinemia with gyrate atrophy of choroid and retina
A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.
Variantes genéticas (ClinVar)
439 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença do metabolismo da ornitina
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença do metabolismo da ornitina
Centros para Doença do metabolismo da ornitina
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
ODC1 restricts meningeal B cell age-associated-like phenotype and function in multiple sclerosis: A human and experimental study.
Meningeal inflammation, as a clinical feature of multiple sclerosis (MS), is associated with worse clinical disease outcomes. In both relapsing and secondary progressive MS and the experimental autoimmune encephalomyelitis (EAE) MS model, the meninges have been found to contain ectopic lymphoid follicles enriched with B cells. The metabolic requirement of meningeal B cell function in MS or EAE is not well elucidated. Using 7-Tesla MRI brain scans of MS patients and leptomeningeal enhancement as a marker, we found a correlation between meningeal inflammation and metabolites of the arginine/polyamine pathway, a finding recapitulated in EAE. Ornithine Decarboxylase (ODC1), the rate limiting enzyme for polyamine biosynthesis, as well as polyamine metabolism was diminished in the dura meningeal B cells from mice with MOG35-55 induced EAE mice as compared to naïve controls. Pharmacological inhibition of ODC1 restricted meningeal T cells but promoted meningeal B cell proliferation. B cell-specific deletion of ODC1 resulted in expansion of B cells with age-associated B cell-like phenotype (CD11c+CD21/35-CD23-IgD-), an increase in MOG-specific IgG in the brain, reduction of hippocampal synaptic density, and exacerbated disease in the MOG1-125 EAE model. Together, these findings demonstrate a divergent role of polyamines in regulating B and T cell responses in the meninges during autoimmunity.
ODC1 Polyamine Metabolism Drives Prostate Cancer via AKT and Splicing.
Prostate cancer is an aggressive disease with limited quantifiable biomarkers. One gene of interest is ODC1, which encodes ornithine decarboxylase, the rate-limiting enzyme converting ornithine to putrescine in polyamine metabolism. Although ODC1 is known to be involved in prostate cancer development, exactly how it drives the disease mechanistically is not fully understood. To explore this, we created a prostate cancer cell model with reduced ODC1 expression and examined its effects on tumour behaviours. Knocking down ODC1 significantly slowed cell growth and movement while increasing cell death. Using RNA sequencing, we identified over one thousand differentially expressed genes, with 565 upregulated and 497 downregulated, primarily linked to angiogenesis and cell adhesion. We also found more than two thousand alternative splicing events connected to cell cycle regulation and protein modification. Notably, genes including CAV1, ITGB1, BNIP3, and YTHDF2 were associated with the AKT signalling pathway, suggesting a functional link between ODC1 activity and cancer progression. These results indicate that ODC1 influences prostate cancer cell behaviour by regulating both gene expression and splicing, particularly affecting pathways involved in angiogenesis, adhesion, and the cell cycle. This points to the AKT pathway and polyamine metabolism as potentially valuable targets for future prostate cancer therapies.
Pediatric liver transplantation for inherited metabolic disease-Current challenges.
Liver transplantation (LT) was first introduced in the early 1960s, with early paediatric experience marked by significant technical challenges and high risk. Advances in surgical techniques and immunosuppressive therapy in the late 1970s led to successful paediatric LT outcomes, while continued improvements throughout the 1980s and 1990s have enhanced survival and reduced complications. Current 10-year graft and patient survival rates for elective paediatric indications exceed 90%. Over the past two decades, LT has increasingly been used to treat inherited metabolic diseases (IMDs), which now account for 25-30% of paediatric LT. Initially recommended for tyrosinaemia type 1 in 1978 and later for urea cycle disorders such as ornithine transcarbamylase deficiency, LT can be curative when the metabolic defect is confined to the liver and partially corrective in conditions with extrahepatic involvement. As indications expand and earlier intervention is emphasized, this review examines the role of LT in IMDs, highlighting current concepts, challenges, and controversies.
Serum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.
Alzheimer's disease (AD) is a multifactorial neurodegenerative disease. Identifying early diagnostic biomarkers are crucial for improving the accuracy and timeliness of the disease diagnosis and prognostication. Emerging evidence links metabolic dysregulation to AD pathogenesis. We evaluated serum metabolites and their association with regional brain hypometabolism measured using fluorodeoxyglucose positron emission tomography (FDG‑PET). We studied 892 participants using the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort, including 286 cognitively normal (CN) individuals, 468 patients with mild cognitive impairment (MCI), and 138 with AD who had a complete baseline FDG‑PET and serum metabolomics data. After outlier removal and adjustment for age, sex, and years of education, we tested linear associations between individual metabolite levels and glucose standardized uptake value ratio (SUVR) as a measure of brain metabolism within predefined regions of interest (ROIs). In the AD group, higher levels of hydroxyproline (β = 0.24, P = 0.005) and aspartate (β = 0.17, P = 0.047) were associated with greater FDG SUVR prior to adjustment, although the association with aspartate did not remain significant after FDR correction. In the MCI group, higher levels of putrescine (β = -0.12, P = 0.010) and glutamine (β = -0.11, P = 0.019) were related to lower FDG SUVR prior to adjustment but lost significance after correction. In CN participants, higher levels of ornithine were associated with greater FDG SUVR (β = 0.13, P = 0.030) prior to adjustment. Our findings suggest that specific serum metabolites show differential associations with regional brain glucose hypometabolism in patients across the AD continuum. While these associations did not remain significant after correction for multiple testing, preliminary signals linking amino acid-related metabolites (e.g., hydroxyproline, aspartate, putrescine, glutamine, and ornithine) to brain metabolism highlight the potential role of metabolic pathways in AD pathophysiology. These results support the utility of metabolomics as a complementary approach for identifying early biomarkers of neurodegeneration.
Gyrate atrophy of the choroid and retina: a tertiary center experience.
Gyrate atrophy of the choroid and retina (GACR) is a rare amino acid metabolism disorder. Night blindness, cataracts, vision loss, and impaired cognitive functions can be seen. An arginine-restricted diet, combined with pyridoxine, lysine, proline, or creatine supplementation, can be used in conjunction with treatments for ophthalmological findings. Patients followed by the Gazi University Faculty of Medicine, Department of Pediatric Metabolism and Nutrition, and Department of Ophthalmology who were genetically or biochemically diagnosed with GACR were included in the study. The patients' medical records were retrospectively reviewed between 2000 and 2023. Seven patients with a mean age of 18.08 ± 8.6 years and a mean age at diagnosis of 10.4 ± 5.6 years were included. The earliest diagnosed patient was 15 months old. All patients had high plasma ornithine levels at the time of diagnosis, and they were all started on an arginine-restricted diet. Ophthalmological treatments were decided on a patient-specific basis. GACR is easily recognizable, but there is still no consensus on treatment modalities. The patients primarily present with progressive ophthalmological findings. An arginine-restricted diet is combined with supplementation with pyridoxine, lysine, proline, or creatine to improve metabolic control. Ophthalmological treatments are mainly applied to reduce cystoid macular edema. Early diagnosis and early initiation of therapy should be aimed at patients, and a multidisciplinary approach should be demonstrated both in diagnosis and follow-up.
Publicações recentes
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Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.
Scientific reportsODC1 restricts meningeal B cell age-associated-like phenotype and function in multiple sclerosis: A human and experimental study.
Proceedings of the National Academy of Sciences of the United States of AmericaIntegrated Genome-wide Association and Single-cell Transcriptomic Analysis Identifies OAT as Therapeutic Targets for Periodontitis.
InflammationODC1 Polyamine Metabolism Drives Prostate Cancer via AKT and Splicing.
Journal of cellular and molecular medicinePediatric liver transplantation for inherited metabolic disease-Current challenges.
Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation].
Revista medica del Instituto Mexicano del Seguro SocialHyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.
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Research squareSerum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.
IBRO neuroscience reportsLower serum threonine and glutamine levels could be a predictor for multiple sclerosis in pregnancy.
Scandinavian journal of clinical and laboratory investigationA Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.
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Journal of pharmaceutical and biomedical analysisGyrate atrophy of the choroid and retina: a tertiary center experience.
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British journal of anaesthesiaMendelian randomization suggests a causal relationship between cerebrospinal fluid metabolites and intracranial aneurysms.
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Orphanet journal of rare diseasesDisruption of P. falciparum amino acid transporter elevates intracellular proline and induces resistance to Prolyl-tRNA synthetase inhibitors.
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Molecular and cellular biochemistryMetabolic, pathological, and genetic analyses of foals neonatal foals that died in Noma horses.
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Frontiers in immunologyDivergent roles of red cell arginase in humans and mice: RBC Arg1 KO mice show preserved systemic l-arginine bioavailability and infarct size in vivo.
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Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesPolyamine Depletion by D,L-α-Difluoromethylornithine Inhibits Ewing Sarcoma Metastasis by Inducing Ferroptosis.
Clinical cancer research : an official journal of the American Association for Cancer ResearchDiagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology.
Molecular genetics and metabolism reportsArginase deficiency in Mexico: Insights from the experience of a metabolic reference center.
Molecular genetics and metabolism reportsDiscovery of a Widespread Polyamine-Low-Molecular-Weight Thiol Hybrid Pathway in Clostridioides difficile.
ACS infectious diseasesLate-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.
Postepy psychiatrii neurologiiAsymmetric dimethylarginine and citrulline are risk factors for cardiovascular disease independently of both estimated and measured GFR.
Clinical kidney journalThe current social status in adult patients with urea cycle disorders in Japan.
Molecular genetics and metabolismCl-amidine confers organ protection and improves survival in hemorrhagic shock rats via the PAD4-CitH3-NETs axis.
PloS oneAn Open-Label Randomized Controlled Non-Inferiority Trial of Arginine Glutamate Injection for the Treatment of Mild Hepatic Encephalopathy.
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Frontiers in computational neuroscienceIntegrated analysis of serum metabolomics and fecal microbiome in infants with necrotizing enterocolitis.
Frontiers in microbiologyFecal gut microbiota and amino acids as noninvasive diagnostic biomarkers of Pediatric inflammatory bowel disease.
Gut microbesPerioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report.
Frontiers in pediatricsPreparation of a Brucella multiepitope fusion protein based on bioinformatics and its application in serological diagnosis of human brucellosis.
Scientific reportsMechanism Study on the Preventive Effect of ELITEA Compound Tea on Hyperuricemia in Rats Based on Serum Untargeted Metabolomics.
MetabolitesNovel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.
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Scientific reportsCollection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies.
Methods in enzymologyMonitoring ODC activity and polyamines in Bachmann-Bupp syndrome patient biological samples.
Methods in enzymologyEndogenous dysregulated energy and amino acid metabolism delay scaffold-guided large volume bone regeneration in a diabetic rat model with Leptin receptor deficiency.
Acta biomaterialiaThe mitochondrial protease ClpP is a metabolic vulnerability and an immunogenic trigger against multiple myeloma.
BloodIn Vivo Antitumor Activity of Allicin in a Pediatric Neuroblastoma Patient-derived Xenograft (PDX) Mouse Model.
In vivo (Athens, Greece)LACC1 Enhances Polyamine Immunometabolism in Inflammatory Macrophages to Inhibit Atherosclerosis Progression.
Journal of cardiovascular translational researchUrea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy.
Metabolic brain diseasePipecolic acid: A positive regulator of systemic acquired resistance and plant immunity.
Biochimica et biophysica acta. General subjectsAnalysis of Metabolomic Reprogramming Induced by Infection with Kaposi's Sarcoma-Associated Herpesvirus Using Untargeted Metabolomic Profiling.
International journal of molecular sciencesDietary advanced glycation end products may increase the incidence of allergic rhinitis depending on genetic susceptibility: a prospective cohort study.
Food & functionChild Neurology: Creatine Biosynthesis Disorder in an Adolescent With Capgras Syndrome and Reduplicative Paramnesia.
NeurologyUnderstanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.
NutrientsNeutrophil Extracellular Traps-Associated RNA Impedes CD4+ Treg Differentiation by TLR7-IRF7 Axis in Ankylosing Spondylitis.
Arthritis & rheumatology (Hoboken, N.J.)Astrocytic Ornithine Decarboxylase 1 in Alzheimer's Disease.
Experimental neurobiologyOTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis.
Molecular genetics and metabolism reportsOleic acid regulates CD4+ T cells differentiation by targeting ODC1-mediated STAT5A phosphorylation in Vogt-Koyanagi-Harada disease.
Phytomedicine : international journal of phytotherapy and phytopharmacologyMolecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Acta ophthalmologicaMultiomics approach reveals the comprehensive interactions between nutrition and children's gut microbiota, and microbial and host metabolomes.
Nutrition journalHepatic Encephalopathy: Current Thoughts on Pathophysiology and Management.
Current neurology and neuroscience reportsL-arginine dependence of breast cancer - molecular subtypes matter.
BMC cancerDissecting Causal Relationships Between Immune Cells, Plasma Metabolites, and PCOS: Evidence From Mediating Mendelian Randomization Analysis.
International journal of women's healthClinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.
Orphanet journal of rare diseasesMaternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes.
Molecular genetics and metabolismSalivary Metabolomics as a Diagnostic Tool: Distinct Metabolic Profiles Across Orofacial Pain Subtypes.
International journal of molecular sciencesBiochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.
ACS chemical biologyHyperammonemia induces programmed liver cell death.
Science advancesMulti-omics analysis of synovial tissue and fluid reveals differentially expressed proteins and metabolites in osteoarthritis.
Journal of translational medicineEmpagliflozin ameliorates renal and metabolic derangements in obese type 2 diabetic mice by blocking advanced glycation end product-receptor axis.
Molecular medicine (Cambridge, Mass.)Design, Synthesis, and Biological Activity of Novel Ornithine Decarboxylase (ODC) Inhibitors.
Journal of medicinal chemistryAstrocyte dysfunction alters GABAergic communication and ammonia metabolism in the streptozotocin-induced sporadic Alzheimer's disease model.
Journal of Alzheimer's disease reportsArginine metabolism and neurocognitive impairment in offspring of bipolar parents: a high-risk case-control study.
Frontiers in psychiatryJinkui Shenqi decoction targets PAD4 to restrain NETosis and ameliorates psoriasis progression.
Phytomedicine : international journal of phytotherapy and phytopharmacologyMechanism of calcitonin gene related peptide against acute pancreatitis in rats by modulating amino acid metabolism based on metabonomics.
Scientific reportsNon-targeted Metabolomics Reveals the Potential Role of MFSD8 in Metabolism in Human Endothelial Cells.
Molecular biotechnologyMass spectrometry-based analysis of eccrine sweat supports predictive, preventive and personalised medicine in a cohort of breast cancer patients in Austria.
The EPMA journalPolyamine depletion limits progression of acute leukaemia.
International journal of cancerThe polyamine transporter ATP13A3 mediates difluoromethylornithine-induced polyamine uptake in neuroblastoma.
Molecular oncologySynergistic role of gut-microbial L-ornithine in enhancing ustekinumab efficacy for Crohn's disease.
Cell metabolismPolyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.
HGG advancesEvaluation of serum arginine metabolic pathway markers in patients with bipolar disorder and schizophrenia.
International journal of psychiatry in clinical practiceBiochemistry, pharmacology, and in vivo function of arginases.
Pharmacological reviewsBlood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.
Acta neuropathologica communicationsDose-dependent M2 macrophage polarization induced by Talaromyces marneffei promotes lung cancer cell growth via arginine-ornithine-cycle activation.
Medical microbiology and immunologyOcular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.
Advances in experimental medicine and biologyUrinary metabolomics analysis of patients with renal tubular dysfunction after PCI surgery.
International urology and nephrologyBlimp-1 orchestrates macrophage polarization and metabolic homeostasis via purine biosynthesis in sepsis.
Cell death & diseaseThe Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.
Journal of inherited metabolic diseaseSingle centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.
Molecular genetics and metabolism reportsOrnithine decarboxylase and its role in cancer.
Archives of biochemistry and biophysicsAmino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation.
NutrientsComprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study.
BiomedicinesAttenuating hyperammonemia preserves protein synthesis and muscle mass via restoration of perturbed metabolic pathways in bile duct-ligated rats.
Metabolic brain diseasePolyproline-Polyornithine Diblock Copolymers with Inherent Mitochondria Tropism.
Advanced materials (Deerfield Beach, Fla.)Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.
Orphanet journal of rare diseases[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNovel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Journal of inherited metabolic diseaseSalivary microbiota dysbiosis and elevated polyamine levels contribute to the severity of periodontal disease.
BMC oral healthAndrogen receptor drives polyamine synthesis creating a vulnerability for prostate cancer.
medRxiv : the preprint server for health sciencesCross-reactivity of anti-modified protein antibodies in rheumatoid arthritis.
Clinical and experimental rheumatologyHost Metabolic Alterations Mediate Phyllosphere Microbes Defense upon Xanthomonas oryzae pv oryzae Infection.
Journal of agricultural and food chemistryEffect of menopause on circulating amino acid concentrations in women with fibromyalgia and healthy women.
MaturitasThe gut microbiota-produced vitamin B6 mitigates alcohol-associated liver disease by attenuating hepatic oxidative stress damage.
Hepatology communicationsMetabolic Analysis of Three-Dimensional Cultured Gastrointestinal Cancer Cells Suggests that <sc>l</sc>-Arginine Inhibits Tumor Growth by Affecting the Urea Cycle.
Pathobiology : journal of immunopathology, molecular and cellular biologyAlterations in Mitochondrial Function in Pulmonary Vascular Diseases.
Antioxidants & redox signalingAssessment of the Relationship Between Amino Acid Status and Parkinson's Disease: A Comprehensive Review and Meta-analysis.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesMetabolomic profiles of infants classified as sudden infant death syndrome: a case-control analysis.
EBioMedicineMultimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.
International ophthalmologyThe role of urine metabolomics in the diagnosis and management of adult and pediatric Crohn's disease and ulcerative colitis.
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicalsPharmacological blocking of neutrophil extracellular traps attenuates immunothrombosis and neuroinflammation in cerebral cavernous malformation.
Nature cardiovascular researchHyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients.
Medicina (Kaunas, Lithuania)Biomarkers of Frailty in Patients with Advanced Chronic Liver Disease Undergoing a Multifactorial Intervention Consisting of Home Exercise, Branched-Chain Amino Acids, and Probiotics.
BiomoleculesA novel de novo missense OTC mutation in an Iranian girl: a case report.
Journal of pediatric endocrinology & metabolism : JPEMA Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.
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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.
- ODC1 restricts meningeal B cell age-associated-like phenotype and function in multiple sclerosis: A human and experimental study.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41824499mais citado
- ODC1 Polyamine Metabolism Drives Prostate Cancer via AKT and Splicing.
- Pediatric liver transplantation for inherited metabolic disease-Current challenges.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association· 2026· PMID 41793380mais citado
- Serum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.
- Gyrate atrophy of the choroid and retina: a tertiary center experience.
- Amino-acid metabolism and liver ultrastructure in hyperornithinemia with gyrate atrophy of the choroid and retina.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:289869(Orphanet)
- MONDO:0017356(MONDO)
- GARD:21158(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787007(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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