Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da ornitina
ORPHA:289869CID-10 · E72.4CID-11 · 5C50.9DOENÇA RARA

É uma doença metabólica hereditária causada por uma alteração no metabolismo da ornitina.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

É uma doença metabólica hereditária causada por uma alteração no metabolismo da ornitina.

Publicações científicas
1 artigos
Último publicado: 1979 Oct
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +8CID-10: E72.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (7)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)nutritional
0301070040
Atendimento em reabilitação — doenças raras
+1 outros procedimentos
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O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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

🧠
Neurológico
31 sintomas
🦴
Ossos e articulações
20 sintomas
👁️
Olhos
18 sintomas
💪
Músculos
8 sintomas
😀
Face
7 sintomas
🫃
Digestivo
7 sintomas

+ 55 sintomas em outras categorias

Características mais comuns

Cisterna magna aumentada
Crista nasal estreita
Atetose
Pectus excavatum
Hipoprolinemia
Fontanelas grandes
172sintomas
Sem dados (172)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 172 características clínicas mais associadas, ordenadas por frequência.

Cisterna magna aumentadaEnlarged cisterna magna
Crista nasal estreitaNarrow nasal ridge
AtetoseAthetosis
Pectus excavatum
HipoprolinemiaHypoprolinemia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Total histórico1PubMed
Últimos 10 anos200publicações
Pico2025148 papers
Linha do tempo
2024Hoje · 2026🧪 1995Primeiro ensaio clínico📈 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

2 genes identificados com associação a esta condição.

ALDH18A1Delta-1-pyrroline-5-carboxylate synthaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine

LOCALIZAÇÃO

MitochondrionMitochondrion matrix

VIAS BIOLÓGICAS (1)
Mitochondrial protein degradation
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (6)
hereditary spastic paraplegia 9Aautosomal recessive complex spastic paraplegia type 9Bcutis laxa, autosomal dominant 3ALDH18A1-related de Barsy syndrome
HGNC:9722UniProt:P54886
OATOrnithine aminotransferase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (1)
Glutamate and glutamine metabolism
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Intestino delgado
165.3 TPM
Fibroblastos
139.5 TPM
Aorta
118.9 TPM
Artéria tibial
116.9 TPM
Cervix Endocervix
110.6 TPM
OUTRAS DOENÇAS (1)
ornithine aminotransferase deficiency
HGNC:8091UniProt:P04181

Variantes genéticas (ClinVar)

439 variantes patogênicas registradas no ClinVar.

🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1702C>T (p.Gln568Ter) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.2110+1G>T ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.358G>A (p.Val120Ile) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1274G>A (p.Arg425His) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1895A>G (p.Gln632Arg) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 22
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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 America2026 Mar 17

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.

#2

ODC1 Polyamine Metabolism Drives Prostate Cancer via AKT and Splicing.

Journal of cellular and molecular medicine2026 Mar

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.

#3

Pediatric liver transplantation for inherited metabolic disease-Current challenges.

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association2026 Mar 06

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.

#4

Serum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.

IBRO neuroscience reports2026 Jun

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.

#5

Gyrate atrophy of the choroid and retina: a tertiary center experience.

Orphanet journal of rare diseases2026 Feb 16

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

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

Scientific reports
2026

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

Integrated Genome-wide Association and Single-cell Transcriptomic Analysis Identifies OAT as Therapeutic Targets for Periodontitis.

Inflammation
2026

ODC1 Polyamine Metabolism Drives Prostate Cancer via AKT and Splicing.

Journal of cellular and molecular medicine
2026

Pediatric liver transplantation for inherited metabolic disease-Current challenges.

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
2026

[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation].

Revista medica del Instituto Mexicano del Seguro Social
2026

Hyperammonemia-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.

Cureus
2026

Polyamine metabolic enzyme SAT1 remodels the neuronal transcriptome and rescues α-synuclein toxicity in Drosophila.

Research square
2026

Serum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.

IBRO neuroscience reports
2026

Lower serum threonine and glutamine levels could be a predictor for multiple sclerosis in pregnancy.

Scandinavian journal of clinical and laboratory investigation
2026

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

Clinical case reports
2026

Unraveling the role of polyamine metabolism in postoperative delirium: insights into biochemical mechanisms and biomarker potential.

npj aging
2025

Maternal Toxoplasma gondii Infection Perturbs Foetal and Maternal Foetal Interface Metabolism, Exposing the Foetus to Kynurenine.

British journal of biomedical science
2026

Akkermansia muciniphila reduces neuroinflammation and Aβ deposition via tryptophan metabolism in the APP/PS1 mouse model of Alzheimer's disease.

Alzheimer's research & therapy
2026

Development and validation of a robust UPLC-MS/MS method for the analysis of polyamines in cells, biofluids and tissues.

Journal of pharmaceutical and biomedical analysis
2026

Gyrate atrophy of the choroid and retina: a tertiary center experience.

Orphanet journal of rare diseases
2026

HLA-B27-associated gut microbiota and amino acid perturbations promote ankylosing spondylitis through M1 macrophage activation.

Gut microbes
2026

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord.

Diagnostics (Basel, Switzerland)
2026

Can ammonia scavenging treat MASLD? Evaluating the evidence for L-ornithine L-aspartate-A systematic review.

European journal of clinical investigation
2026

[Plasma metabolites mediates the causal effect of inflammatory proteins on Alzheimer's disease: a Mendelian randomization study].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University
2026

Single-cell analysis identifies ATC-like cells driving progression in relapsed follicular thyroid carcinoma.

Endocrinology
2026

Biocontrol efficacy and mechanism of Bacillus subtilis PL5 against root rot of sweet potato: Insights into antifungal activity and metabolite function.

Pesticide biochemistry and physiology
2026

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.

Clinica chimica acta; international journal of clinical chemistry
2026

Phosphate binders suppress glutaminase activity for treatment of cirrhosis and hepatic encephalopathy murine models.

Biochemical pharmacology
2026

The antimycobacterial and healing effect of sorafenib through pro-apoptotic and immunomodulatory activities.

Microbiology spectrum
2026

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

JIMD reports
2026

Rapid, non-invasive diagnosis of tuberculosis using desorption separation ionization mass spectrometry (DSI-MS) and urinary carbonyl metabolite fingerprints.

Talanta
2026

Synthesis-driven reverse metabolomics reveals 3-hydroxy N-acyl amides as gut microbial molecules.

bioRxiv : the preprint server for biology
2026

Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.

Molecular genetics and metabolism
2025

A Mysterious Case of Recurrent Confusion: An Unusual Presentation of Congenital Intrahepatic Portosystemic Shunt.

Cureus
2026

Urea cycle modulation by combined SGLT2 inhibitors and metformin.

BMC medicine
2025

Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report.

Radiation oncology journal
2026

Polyamine pathway in neurological disorders: Potential therapeutic implications based on current evidences.

Brain research bulletin
2026

Advances in understanding, diagnosing, and treating hepatic encephalopathy: from epidemiology to emerging therapies.

Naunyn-Schmiedeberg's archives of pharmacology
2025

The dysbiosis of intestinal microbiota associated with isolated tricuspid valve regurgitation.

Journal of cardiothoracic surgery
2025

First exposure to second-generation antipsychotics alters gut microbiota and metabolic profiles in patients with glucose-lipid metabolism disorders.

Frontiers in psychiatry
2025

Ornithine lipids from Akkermansia muciniphila are dynamically modulated in colitis and shape macrophage inflammatory responses.

Gut microbes
2026

Changes in the microbiota following allogeneic hematopoietic stem cell transplantation: A potential bioguide for clinical outcome?

Hematology, transfusion and cell therapy
2026

Combined inhibition of polyamine biosynthesis and uptake blocks Candida albicans virulence.

mBio
2025

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.

International journal of molecular sciences
2025

Genetic insights into the causal role of metabolic, immune, and microbial factors in migraine.

Neurogenetics
2025

Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.

Children (Basel, Switzerland)
2025

Gut microbiota L-ornithine promotes resistance to obesity through metabolites mediated immunosuppressive macrophages.

Cellular and molecular life sciences : CMLS
2025

Lysosomal acidity and cathepsin L activate eosinophils via ARG1-mediated arginine metabolism in allergic airway inflammation.

Nature communications
2026

Amino acid decarboxylation preserves Salmonella fitness during phagocyte-derived oxidative stress.

mBio
2025

Altered Arginine Metabolism in Children Undergoing Fontan Palliation: A Prospective Cohort Study.

Pulmonary circulation
2026

Serum analysis of type 2 diabetes mellitus patients with low, moderate, and high risk of diabetic kidney disease using LC-MS metabolomics approach.

Journal of diabetes and its complications
2026

Realgar-Induced CNS Toxicity: Exploring OTC-Mediated Ornithine Regulation of ZBTB7A Inhibits Astrocyte Glycolysis Based on the Liver-Brain Axis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Androgen Receptor Drives Polyamine Synthesis, Creating a Vulnerability for Prostate Cancer.

Cancer research
2026

Biological Validation of the PSC-MCAT: Analyzing Dental Plaque Microbiota Across Caries Risk Levels in Preschoolers.

International dental journal
2025

[Hyperammonemia and metabolic-associated fatty liver disease: a complex relationship].

Voprosy pitaniia
2025

Hyperammonemia in Inherited Metabolic Diseases: A Case Report.

Cureus
2025

Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.

BMJ case reports
2025

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Journal of child neurology
2025

Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report.

Translational pediatrics
2025

Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.

Journal of neurosurgery. Case lessons
2025

Integrated gut microbiota and metabolomic profiling reveals key associations between amino acid levels and gut microbial composition in patients with obesity.

Frontiers in nutrition
2025

Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.

Balkan journal of medical genetics : BJMG
2025

Metabolomics Profiling of Kidney, Spleen, Lung, and Liver Tissues in a Mouse Model of Sepsis.

Frontiers in bioscience (Landmark edition)
2025

In vitro derivation of midbrain dopaminergic neurons from porcine embryonic stem cells in multi-dimensional conditions.

Stem cell research & therapy
2025

Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Cureus
2025

Serum L-ornithine-derived polyamines as indicators of Parkinson disease progression.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Analysis of the time-course change of acute-phase energy metabolism in critically ill patients using untargeted metabolomics.

Clinical nutrition (Edinburgh, Scotland)
2025

Metabolomics approaches for the early detection and therapeutics: type 2 diabetes-induced diabetic kidney disease-a systematic review and meta-analysis.

Metabolomics : Official journal of the Metabolomic Society
2025

TET1 modulates trophoblast function by regulation of ODC1 in preeclampsia.

Scientific reports
2025

Investigation of N-desmethyl-acetamiprid-induced neurotransmitter disturbances in cerebrospinal fluid from leukemia patients.

Environmental toxicology and pharmacology
2026

Loss of arginase 2 disrupts striatum-specific polyamine homeostasis.

The FEBS journal
2025

Metabolomic profiling of Burkholderia thailandensis infection of airway epithelial cells provides insights into potential therapeutic targets.

mSystems
2025

Nitrogen Scavengers: History, Clinical Considerations and Future Prospects.

Journal of inherited metabolic disease
2025

L-ornithine liposomal nanoparticles as competitive inhibitor against Δ1-pyrroline-5-carboxylate dehydrogenase: Kinetic perspective hepatic encephalopathy therapy.

International journal of biological macromolecules
2025

Preclinical Evaluation of the Efficacy of α-Difluoromethylornithine and Sulindac Against SARS-CoV-2 Infection.

Viruses
2025

Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.

Orphanet journal of rare diseases
2025

Multi-omics insights into the molecular basis of powdery mildew resistance and root metabolic variation in Astragalus membranaceus var. mongholicus.

Scientific reports
2025

HIVEP1 aggravates NASH by reprogramming polyamine metabolism in TH17 cells.

Science translational medicine
2025

Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD).

Journal of patient-reported outcomes
2025

κ-Opioid receptor activation suppresses triple-negative breast cancer progression by inducing urea cycle dysfunction and mitochondrial damage in vitro and in mice.

British journal of anaesthesia
2025

Mendelian randomization suggests a causal relationship between cerebrospinal fluid metabolites and intracranial aneurysms.

Neurosurgical review
2025

Liver transplantation in late-onset ornithine transcarbamylase deficiency with acute liver failure: A case report.

Pediatrics international : official journal of the Japan Pediatric Society
2025

Yiai Fuzheng decoction inhibits triple-negative breast cancer by remodeling the immune microenvironment.

Frontiers in immunology
2026

Podocyte Metabolic Reprogramming and Targeted Therapy.

Journal of the American Society of Nephrology : JASN
2025

The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.

Journal of inherited metabolic disease
2025

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives.

Journal of inherited metabolic disease
2025

Quantitative analysis of serum metabolites in a rat model of Alzheimer's disease.

Frontiers in aging neuroscience
2025

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.

Orphanet journal of rare diseases
2025

Disruption of P. falciparum amino acid transporter elevates intracellular proline and induces resistance to Prolyl-tRNA synthetase inhibitors.

Cell chemical biology
2025

FMO2 Promotes Angiogenesis via Regulation of N-Acetylornithine.

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

Monoclonal antibody-based assay to identify compounds that inhibit Nδ-(5-hydro-4-imidazolon-2-yl)ornithine (G-H1) formation.

Glycoconjugate journal
2025

Yigong San Extract Modulates Metabolism, Antioxidant Status, and Immune Function to Improve Health in Diarrheic Calves.

Metabolites
2025

Alteration of the follicular fluid amino acid profile reveals the important roles of several amino acids in embryo quality in patients with polycystic ovary syndrome.

Reproductive biology and endocrinology : RB&E
2025

Reprogramming neuroblastoma by diet-enhanced polyamine depletion.

Nature
2025

Current Treatment Modalities for Urea Cycle Disorders.

Paediatric drugs
2025

ODC1 loss upon KLF6 upregulation promotes macrophage pyroptosis and acute kidney injury in sepsis.

Human cell
2025

Identification of potential biomarkers for diabetic nephropathy via UPLC-MS/MS-based metabolomics.

Frontiers in endocrinology
2025

Amino acid profiles, aging, and sex hormone interactions in the elderly Iranian population: a metabolomics study.

Journal of diabetes and metabolic disorders
2025

Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

Neurobiology of disease
2025

Phase I dose-escalation trial of AMXT 1501 dicaprate plus difluoromethylornithine: a dual-agent approach targeting immunosuppressive polyamine metabolism.

ESMO open
2025

Myeloid-mesenchymal crosstalk drives ARG1-dependent profibrotic metabolism via ornithine in lung fibrosis.

The Journal of clinical investigation
2025

Recurrent Male Neonatal Deaths in a Heterozygous X-linked Ornithine Transcarbamylase Deficiency Carrier Pregnant Woman.

Journal of obstetrics and gynaecology of India
2025

[Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

Characterization of intestinal microbiota in patients with psoriasis combined with metabolic syndrome.

Molecular and cellular biochemistry
2025

Metabolic, pathological, and genetic analyses of foals neonatal foals that died in Noma horses.

Journal of equine science
2025

A Case of a Heterozygous Female Patient With Ornithine Transcarbamylase (OTC) Deficiency Successfully Treated by Liver Transplantation in Adulthood.

Cureus
2025

Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.

Orphanet journal of rare diseases
2025

Arginine Metabolic Disruption Impairs Hair Regeneration via ROS-Mediated Inactivation of mTOR Signaling in Androgenetic Alopecia.

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

Personalized Clostridioides difficile colonization risk prediction and probiotic therapy assessment in the human gut.

Cell systems
2025

High-dose DFMO alters protein translation in neuroblastoma.

Neoplasia (New York, N.Y.)
2025

Antimycobacterial and immunomodulatory activities of sorafenib in a preclinical mouse model of TB infection through CD4+CD25low and CD8+CD25low effector T cells.

Frontiers in immunology
2025

Divergent roles of red cell arginase in humans and mice: RBC Arg1 KO mice show preserved systemic l-arginine bioavailability and infarct size in vivo.

Redox biology
2025

Targeted metabolomics analysis of 21 amino acids in serum of silicosis patients using HILIC-MS/MS.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2025

Polyamine 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 Research
2025

Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology.

Molecular genetics and metabolism reports
2025

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.

Molecular genetics and metabolism reports
2025

Discovery of a Widespread Polyamine-Low-Molecular-Weight Thiol Hybrid Pathway in Clostridioides difficile.

ACS infectious diseases
2025

Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.

Postepy psychiatrii neurologii
2025

Asymmetric dimethylarginine and citrulline are risk factors for cardiovascular disease independently of both estimated and measured GFR.

Clinical kidney journal
2025

The current social status in adult patients with urea cycle disorders in Japan.

Molecular genetics and metabolism
2025

Cl-amidine confers organ protection and improves survival in hemorrhagic shock rats via the PAD4-CitH3-NETs axis.

PloS one
2025

An Open-Label Randomized Controlled Non-Inferiority Trial of Arginine Glutamate Injection for the Treatment of Mild Hepatic Encephalopathy.

Journal of digestive diseases
2025

Alteration of Tear Metabolomics Profiling in Infants With Retinopathy of Prematurity.

Investigative ophthalmology & visual science
2025

Constraint-based modeling of bioenergetic differences between synaptic and non-synaptic components of dopaminergic neurons in Parkinson's disease.

Frontiers in computational neuroscience
2025

Integrated analysis of serum metabolomics and fecal microbiome in infants with necrotizing enterocolitis.

Frontiers in microbiology
2025

Fecal gut microbiota and amino acids as noninvasive diagnostic biomarkers of Pediatric inflammatory bowel disease.

Gut microbes
2025

Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report.

Frontiers in pediatrics
2025

Preparation of a Brucella multiepitope fusion protein based on bioinformatics and its application in serological diagnosis of human brucellosis.

Scientific reports
2025

Mechanism Study on the Preventive Effect of ELITEA Compound Tea on Hyperuricemia in Rats Based on Serum Untargeted Metabolomics.

Metabolites
2025

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.

Journal of inherited metabolic disease
2025

Application of IVDr NMR spectroscopy to stratify Parkinson's disease with absolute quantitation of blood serum metabolites and lipoproteins.

Scientific reports
2025

Collection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies.

Methods in enzymology
2025

Monitoring ODC activity and polyamines in Bachmann-Bupp syndrome patient biological samples.

Methods in enzymology
2025

Endogenous dysregulated energy and amino acid metabolism delay scaffold-guided large volume bone regeneration in a diabetic rat model with Leptin receptor deficiency.

Acta biomaterialia
2025

The mitochondrial protease ClpP is a metabolic vulnerability and an immunogenic trigger against multiple myeloma.

Blood
2025

In Vivo Antitumor Activity of Allicin in a Pediatric Neuroblastoma Patient-derived Xenograft (PDX) Mouse Model.

In vivo (Athens, Greece)
2025

LACC1 Enhances Polyamine Immunometabolism in Inflammatory Macrophages to Inhibit Atherosclerosis Progression.

Journal of cardiovascular translational research
2025

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy.

Metabolic brain disease
2025

Pipecolic acid: A positive regulator of systemic acquired resistance and plant immunity.

Biochimica et biophysica acta. General subjects
2025

Analysis of Metabolomic Reprogramming Induced by Infection with Kaposi's Sarcoma-Associated Herpesvirus Using Untargeted Metabolomic Profiling.

International journal of molecular sciences
2025

Dietary advanced glycation end products may increase the incidence of allergic rhinitis depending on genetic susceptibility: a prospective cohort study.

Food & function
2025

Child Neurology: Creatine Biosynthesis Disorder in an Adolescent With Capgras Syndrome and Reduplicative Paramnesia.

Neurology
2025

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Nutrients
2025

Neutrophil Extracellular Traps-Associated RNA Impedes CD4+ Treg Differentiation by TLR7-IRF7 Axis in Ankylosing Spondylitis.

Arthritis & rheumatology (Hoboken, N.J.)
2025

Astrocytic Ornithine Decarboxylase 1 in Alzheimer's Disease.

Experimental neurobiology
2024

OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis.

Molecular genetics and metabolism reports
2025

Oleic acid regulates CD4+ T cells differentiation by targeting ODC1-mediated STAT5A phosphorylation in Vogt-Koyanagi-Harada disease.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta ophthalmologica
2025

Multiomics approach reveals the comprehensive interactions between nutrition and children's gut microbiota, and microbial and host metabolomes.

Nutrition journal
2025

Hepatic Encephalopathy: Current Thoughts on Pathophysiology and Management.

Current neurology and neuroscience reports
2025

L-arginine dependence of breast cancer - molecular subtypes matter.

BMC cancer
2025

Dissecting Causal Relationships Between Immune Cells, Plasma Metabolites, and PCOS: Evidence From Mediating Mendelian Randomization Analysis.

International journal of women's health
2025

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.

Orphanet journal of rare diseases
2025

Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes.

Molecular genetics and metabolism
2025

Salivary Metabolomics as a Diagnostic Tool: Distinct Metabolic Profiles Across Orofacial Pain Subtypes.

International journal of molecular sciences
2025

Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.

ACS chemical biology
2025

Hyperammonemia induces programmed liver cell death.

Science advances
2025

Multi-omics analysis of synovial tissue and fluid reveals differentially expressed proteins and metabolites in osteoarthritis.

Journal of translational medicine
2025

Empagliflozin ameliorates renal and metabolic derangements in obese type 2 diabetic mice by blocking advanced glycation end product-receptor axis.

Molecular medicine (Cambridge, Mass.)
2025

Design, Synthesis, and Biological Activity of Novel Ornithine Decarboxylase (ODC) Inhibitors.

Journal of medicinal chemistry
2024

Astrocyte dysfunction alters GABAergic communication and ammonia metabolism in the streptozotocin-induced sporadic Alzheimer's disease model.

Journal of Alzheimer's disease reports
2025

Arginine metabolism and neurocognitive impairment in offspring of bipolar parents: a high-risk case-control study.

Frontiers in psychiatry
2025

Jinkui Shenqi decoction targets PAD4 to restrain NETosis and ameliorates psoriasis progression.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Mechanism of calcitonin gene related peptide against acute pancreatitis in rats by modulating amino acid metabolism based on metabonomics.

Scientific reports
2026

Non-targeted Metabolomics Reveals the Potential Role of MFSD8 in Metabolism in Human Endothelial Cells.

Molecular biotechnology
2025

Mass spectrometry-based analysis of eccrine sweat supports predictive, preventive and personalised medicine in a cohort of breast cancer patients in Austria.

The EPMA journal
2025

Polyamine depletion limits progression of acute leukaemia.

International journal of cancer
2025

The polyamine transporter ATP13A3 mediates difluoromethylornithine-induced polyamine uptake in neuroblastoma.

Molecular oncology
2025

Synergistic role of gut-microbial L-ornithine in enhancing ustekinumab efficacy for Crohn's disease.

Cell metabolism
2025

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.

HGG advances
2024

Evaluation of serum arginine metabolic pathway markers in patients with bipolar disorder and schizophrenia.

International journal of psychiatry in clinical practice
2025

Biochemistry, pharmacology, and in vivo function of arginases.

Pharmacological reviews
2025

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

Acta neuropathologica communications
2025

Dose-dependent M2 macrophage polarization induced by Talaromyces marneffei promotes lung cancer cell growth via arginine-ornithine-cycle activation.

Medical microbiology and immunology
2025

Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.

Advances in experimental medicine and biology
2025

Urinary metabolomics analysis of patients with renal tubular dysfunction after PCI surgery.

International urology and nephrology
2025

Blimp-1 orchestrates macrophage polarization and metabolic homeostasis via purine biosynthesis in sepsis.

Cell death & disease
2025

The 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 disease
2025

Single 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 reports
2025

Ornithine decarboxylase and its role in cancer.

Archives of biochemistry and biophysics
2025

Amino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation.

Nutrients
2024

Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study.

Biomedicines
2025

Attenuating hyperammonemia preserves protein synthesis and muscle mass via restoration of perturbed metabolic pathways in bile duct-ligated rats.

Metabolic brain disease
2025

Polyproline-Polyornithine Diblock Copolymers with Inherent Mitochondria Tropism.

Advanced materials (Deerfield Beach, Fla.)
2025

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.

Orphanet journal of rare diseases
2025

[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 genetics
2025

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Journal of inherited metabolic disease
2025

Salivary microbiota dysbiosis and elevated polyamine levels contribute to the severity of periodontal disease.

BMC oral health
2024

Androgen receptor drives polyamine synthesis creating a vulnerability for prostate cancer.

medRxiv : the preprint server for health sciences
2025

Cross-reactivity of anti-modified protein antibodies in rheumatoid arthritis.

Clinical and experimental rheumatology
2025

Host Metabolic Alterations Mediate Phyllosphere Microbes Defense upon Xanthomonas oryzae pv oryzae Infection.

Journal of agricultural and food chemistry
2025

Effect of menopause on circulating amino acid concentrations in women with fibromyalgia and healthy women.

Maturitas
2025

The gut microbiota-produced vitamin B6 mitigates alcohol-associated liver disease by attenuating hepatic oxidative stress damage.

Hepatology communications
2025

Metabolic 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 biology
2025

Alterations in Mitochondrial Function in Pulmonary Vascular Diseases.

Antioxidants &amp; redox signaling
2024

Assessment 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 neurologiques
2025

Metabolomic profiles of infants classified as sudden infant death syndrome: a case-control analysis.

EBioMedicine
2024

Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.

International ophthalmology
2025

The 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 chemicals
2024

Pharmacological blocking of neutrophil extracellular traps attenuates immunothrombosis and neuroinflammation in cerebral cavernous malformation.

Nature cardiovascular research
2024

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients.

Medicina (Kaunas, Lithuania)
2024

Biomarkers of Frailty in Patients with Advanced Chronic Liver Disease Undergoing a Multifactorial Intervention Consisting of Home Exercise, Branched-Chain Amino Acids, and Probiotics.

Biomolecules
2025

A novel de novo missense OTC mutation in an Iranian girl: a case report.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.

Cureus

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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. 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
  2. ODC1 Polyamine Metabolism Drives Prostate Cancer via AKT and Splicing.
    Journal of cellular and molecular medicine· 2026· PMID 41803527mais citado
  3. Pediatric liver transplantation for inherited metabolic disease-Current challenges.
    Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association· 2026· PMID 41793380mais citado
  4. Serum amino acid levels are associated with brain hypometabolism in patients across the Alzheimer's disease continuum.
    IBRO neuroscience reports· 2026· PMID 41756407mais citado
  5. Gyrate atrophy of the choroid and retina: a tertiary center experience.
    Orphanet journal of rare diseases· 2026· PMID 41699715mais citado
  6. Amino-acid metabolism and liver ultrastructure in hyperornithinemia with gyrate atrophy of the choroid and retina.
    Metabolism· 1979· PMID 491962recente

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Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:289869(Orphanet)
  2. MONDO:0017356(MONDO)
  3. GARD:21158(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença do metabolismo da ornitina
Compêndio · Raras BR

Doença do metabolismo da ornitina

ORPHA:289869 · MONDO:0017356
CID-10
E72.4 · Distúrbios do metabolismo da ornitina
CID-11
MedGen
UMLS
C0342690
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