Problemas na produção de ácidos biliares são um grupo de doenças do metabolismo de esteróis causadas pela falta de enzimas essenciais para a produção desses ácidos (PAB) em bebês, crianças e adultos, com sintomas variados que podem incluir colestase, problemas neurológicos e dificuldade para absorver gorduras. Nove erros inatos foram descritos, e 7 deles causam colestase no fígado.
Introdução
O que você precisa saber de cara
Problemas na produção de ácidos biliares são um grupo de doenças do metabolismo de esteróis causadas pela falta de enzimas essenciais para a produção desses ácidos (PAB) em bebês, crianças e adultos, com sintomas variados que podem incluir colestase, problemas neurológicos e dificuldade para absorver gorduras. Nove erros inatos foram descritos, e 7 deles causam colestase no fígado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 67 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 137 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
6 genes identificados com associação a esta condição.
Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity)
Cell junction, adherens junctionCell membraneCell junction, tight junctionNucleus
Hypercholanemia, familial, 1
A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643, PubMed:2384150). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:11013305, PubMed:12077124, PubMed:199655
Endoplasmic reticulum membraneMicrosome membrane
Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12239217, PubMed:12810727, PubMed:2037576, PubMed:8034703). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes
Cytoplasm, cytosolPeroxisome
Hypercholanemia, familial 3
An autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids.
Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687). Metabolizes the abundant endocannabinoid 2-arachidonoylglycerol (2-AG) to free arachidonic acid (AA) and glycerol (PubMed:24958911). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity)
Microsome membraneEndoplasmic reticulum membrane
Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:12077124, PubMed:21411718, PubMed:28190002, PubMed:9660774). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutra
Mitochondrion inner membrane
Cerebrotendinous xanthomatosis
Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
As a major transporter of conjugated bile salts from plasma into the hepatocyte, it plays a key role in the enterohepatic circulation of bile salts necessary for the solubilization and absorption of dietary fat and fat-soluble vitamins (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It is strictly dependent on the extracellular presence of sodium (PubMed:14660639, PubMed:24867799, PubMed:34060352, PubMed:8132774). It exhibits broad substrate specificity and transports variou
Cell membrane
Hypercholanemia, familial, 2
An autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy, fat malabsorption and impaired absorption of fat-soluble vitamins, including D and K. Most patients are asymptomatic. Some neonates may have transient jaundice or transiently elevated liver enzymes.
Variantes genéticas (ClinVar)
388 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
15 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — doença da síntese de ácidos biliares
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados, 1 ativos.
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Intestinal fibrosis is a severe complication of Crohn's disease for which therapy remains suboptimal. Probiotics are widely used in the treatment of intestinal inflammation, but all major guidelines do not recommend in favor of their use, with the exception of an 8-strains bacterial formula, which is recommended for the treatment of pouch inflammation in ulcerative colitis. Using this 8-strains formulation as a comparator, we characterized a 9-strains probiotic formulation enriched with Lactobacillus rhamnosus and paracasei in a mouse model of intestinal inflammation and fibrosis. Our findings demonstrated that while both formulations exerted similar protective effects in acute colitis, only the 9-strains probiotic attenuates inflammation and fibrosis in chronic colitis. Mechanistically, we found that the 9-strains formulation remodeled the microbiota composition and the structure of microbiota-derived secondary bile acids, leading to the selective enrichment of those bile acids that act as GPBAR1 agonists, including 3-oxo-DCA, which in vitro directly attenuates activation of intestinal fibroblasts. Confirming the role of this pathway, feeding Gpbar1⁻/⁻ mice with 9-strains probiotic formulation abrogates its beneficial effects on inflammation and fibrosis. These findings highlight the importance of microbial metabolites in shaping probiotic efficacy and support the development of probiotic formulations that target host-microbiota interactions through bile acid signaling.
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Foods (Basel, Switzerland)Clinicopathological features of hepatobiliary cells in primary biliary cholangitis patients with incomplete response to ursodeoxycholic acid.
BMC gastroenterologyDifferent metabolic pathways associated with total cortisol exposure and the cortisol time profile: a randomized crossover trial.
Scientific reportsMyosin 5b deficiency alters liver proliferation, zonation, and bile acid composition.
Hepatology communicationsPeroxisomes in Aging: Guardians of Cellular Resilience and Function.
CellsThe gut-lung axis in COPD: immunomodulatory roles of gut microbiota and novel therapeutic strategies.
Frontiers in immunologyInteractions between Parabacteroides goldsteinii CCUG 48944 and diet ameliorate colitis in mice via regulating gut bile acid metabolism.
iMetaOmicsUrsodeoxycholic acid alleviates high-fat diet-induced liver injury by modulating gut microbiota-mediated bile acid metabolism: an integrated microbiota-metabolomics analysis.
Frontiers in nutritionBile Acid-microbiota Interactions in Acute-on-chronic Liver Failure: Mechanistic Insights and Therapeutic Strategies.
Current pharmaceutical biotechnologyThree-dimensional reconstruction of a biliary system in a bioengineered liver using decellularized scaffold.
Scientific reportsPrebiotics, Probiotics, and Postbiotics in Modulating Gut Microbiota: Emerging Therapeutic Approaches for Metabolic Syndrome.
Current obesity reportsThe gut-bone axis: mechanisms through which oleic acid regulates bone metabolism and its potential in preventing and treating osteoporosis.
Frontiers in nutritionGut microbiota, liver disease, and perioperative anesthesia: interactions, risks, and therapeutic opportunities.
Frontiers in cellular and infection microbiologyStudy on the effect and mechanism of Ershiyiwei Lvronghao concentrated Pills in the treatment of nonalcoholic fatty liver disease.
Frontiers in pharmacologyExposure to Grilled Lamb-Borne Carbon Quantum Dots Induces Intrahepatic Cholestasis by Activating the Intestinal Microbial-Derived Lipopolysaccharide-TLR4 Pathway.
Small (Weinheim an der Bergstrasse, Germany)Ameliorative effects of Atractylodes macrocephala insoluble dietary fiber on loperamide-induced functional constipation in rats.
Food research international (Ottawa, Ont.)Nanoparticle-Based Oral Delivery of Berberine Attenuates High-Fat Diet-Induced Hepatic Steatosis in Mice: Insights from Integrated Hepatic Metabolomic and Transcriptomic Analyses.
Journal of agricultural and food chemistryMulti-omics reveal the key role of gut microbiota metabolism in adenine-induced chronic kidney disease.
Toxicology and applied pharmacologyXiao-Yao-San suppresses psychological distress-related colorectal cancer metastasis and enhances antitumor immune responses through regulating gut microbiota-bile acid axis.
Phytomedicine : international journal of phytotherapy and phytopharmacologyIleal Bile Acid Transporter Inhibitors in Cholestasis: Potential for More Than Just Paediatrics?
Liver international : official journal of the International Association for the Study of the LiverVeillonella, Neisseria, Prevotella, and Lachnoanaerobaculum enrichment in salivary microbiome predicts gallstone disease.
European journal of medical researchScutellaria baicalensis Georgi and its active component scutellarin alleviate asthma in rats by modulating the gut microbiota-bile acid axis.
Journal of ethnopharmacologyMulti-omics study identifies diagnostic metabolic signatures of early Parkinson's disease associated with dysregulated glutathione and TCA cycle metabolism.
Parkinsonism & related disordersAssociation between the Gut Microbiota and the Pathophysiology of Irritable Bowel Syndrome - a Narrative Review.
DigestionDecreased fatty acid transporter FATP4 is a potential contributor to impaired fat utilization in aging mice.
BiogerontologyTaurochenodeoxycholic Acid Activates Calcium Signaling to Protect Against Fuchs' Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual scienceAmarogentin relieves cholestatic liver injury caused by ANIT in rats by regulating the FXR and Nrf2 pathways.
Iranian journal of basic medical sciencesCan bile salts affect the contractile oesophageal activity associated with gastroesophageal reflux disease?
World journal of gastroenterologyCitrus-Derived Exosome-like Nanoparticles Attenuate High-Fat Diet-Aggravated Colitis by Gut Microbiota-Metabolites Modulation.
Journal of agricultural and food chemistryFree amino-acid and imidazole-ring dipeptide profiles of chicken-liver-hydrolysate supplement and its modulatory effects on lipid metabolism, oxidative status, and inflammation in livers, as well as gut microbiota in a high-fat diet.
Poultry scienceStructure-Based Discovery of Obeticholic Acid Derivatives as Novel Farnesoid X Receptor Partial Agonists with Improved Selectivity and Reduced Off-Target Effects.
ChemMedChemLipidome remodeling in primary biliary cholangitis.
Lipids in health and diseaseProbiotics as emerging adjuncts in metabolic associated fatty liver disease therapy-a systemic review.
BMC gastroenterology[Lactobacillus plantarum alleviates lead exposure-induced learning and memory impairment in mice by regulating bile acid metabolism and inhibiting hippocampal NLRP3 expression].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityMulti-omics reveals that gut microbiota-derived taurodeoxycholic acid mediates the protective effect of Lactobacillus rhamnosus GG against LPS-induced liver injury.
Food & functionCholecystectomy inhibits fasting hepatic fatty acid oxidation in mice.
Communications biologyMalassezia globosa lipidome: The dynamics of uptake and secreted lipids.
VirulenceA novel exopolysaccharide from Lactiplantibacillus plantarum H6 improves cholesterol metabolism via Muribaculum-mediated activation of the enterohepatic FXR-FGF15 axis.
Gut microbesTauroursodeoxycholic acid alleviates depression-like behavior induced by chronic unpredictable mild stress through amelioration of catecholamine imbalance.
Brain researchBeyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX.
Orphanet journal of rare diseasesMultistep receptor binding of the hepatitis B virus preS1 domain.
Nature communicationsPerinatally Accessible Biomarkers of Complex Gastroschisis: Systematic Review and Individual Patient Data Meta-Analysis.
Prenatal diagnosisLCA and 3-oxo-LCA mitigate dietary oxysterols-induced loss of barrier function in intestinal epithelial cells.
SteroidsSilk Fibroin Coated Lactobacillus Plantarum Lac16 Ameliorates Alcoholic Liver Disease by Modulating Bile Acid Metabolism and Gut-Liver Axis.
Small (Weinheim an der Bergstrasse, Germany)Multi-Omics Elucidation of Edulinine's Intervention Mechanism in Hypertensive Rats.
Current issues in molecular biologyChemical Proteomics Reveals Regulation of Bile Salt Hydrolases via Oxidative Post-translational Modifications.
Journal of the American Chemical SocietyVSIG10L is a major determinant of esophageal homeostasis and inherited predisposition to Barrett's esophagus.
Nature communicationsStudy on the mechanism of DLK1 in placenta of intrahepatic cholestasis of pregnancy.
Tissue & cellTauroursodeoxycholic Acid Exerts Neuroprotective Effects in Epilepsy via Suppression of Ferroptosis.
Journal of integrative neuroscienceBile acid signaling mediates gut microbiota regulation of host lipid metabolism.
Frontiers in microbiologyRegulatory effect of Chinese Baijiu on gut microbiota and host metabolism.
Food research international (Ottawa, Ont.)Esculetin improves lipid metabolism disorders induced by a high-fat diet by regulating the P13K-AKT signaling pathway and taurocholic acid metabolism.
Food research international (Ottawa, Ont.)Structures of Ostα/β reveal a unique fold and bile acid transport mechanism.
NatureStructure and mechanism of the human bile acid transporter OSTα-OSTβ.
NatureQuercetin Ameliorates Glucose Metabolism Dysregulation in CUMS Model Rats via the Bile Acid-FXR/TGR5 Axis.
Biological & pharmaceutical bulletinNutritional Modulation of the Gut-Kidney Axis.
NutrientsEffects of Phytochemicals on Atherosclerosis: Based on the Gut-Liver Axis.
NutrientsBile Derivative T3K Ameliorates Colitis by Regulating the Intestinal Microbiota-Bile Acid Axis.
PharmaceuticsPharmacogenomic Pathways Underlying Variable Vedolizumab Response in Crohn's Disease Patients: A Rare-Variant Analysis.
BiomedicinesStudy on the Mechanism of Ganoderma lucidum Polysaccharides for Ameliorating Dyslipidemia via Regulating Gut Microbiota and Fecal Metabolites.
BiomoleculesDevelopment of a standardized murine model for investigating cholesterol crystallization and deposition in the gallbladder wall: effects of dietary cholesterol and pharmacological modulation.
European journal of medical researchSmilax china L. Extract Alleviates Metabolic-Associated Fatty Liver Disease by Regulating Gut Microbiota and Bile Acid Metabolism.
MetabolitesUntargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1.
MetabolitesThe Multifaceted Role of Cytochrome P450 Isoenzymes in Alcoholic and Metabolic (Dysfunction) Fatty Liver Diseases.
Current drug metabolism[Metabolic characteristics of the healthy scalp microenvironment based on spatial metabolomics and its comparison with psoriatic lesions].
Zhonghua yi xue za zhiWhole-transcriptome identification of deleterious variants in candidate genes linked to bovine paratuberculosis.
Scientific reportsMetabolomic profiling of cocaine plus ethanol poly-consumption in young adult rats: Insights into the incubation of drug seeking.
European journal of pharmacologyModulating Bile Acid Metabolism: The Role of Blautia coccoides in Acute Pancreatitis.
Cellular and molecular gastroenterology and hepatologyProbiotics for managing non-alcoholic fatty liver disease: efficacy and mechanistic insights.
Journal of diabetes and metabolic disordersBile Acids as Key Mediators of the Gut Microbiota-Immune Axis: Potential Biomarker and Therapeutic Perspectives.
BioFactors (Oxford, England)Regulation of Traditional Chinese Medicine Gut Microbiota Short-Chain Fatty Acid Axis in Type 2 Diabetes Management: A Review.
The American journal of Chinese medicineMicroRNA-96 inhibition retarded the progression of atherosclerotic plaques via FOXO1/CYP7A1 mediated cholesterol-bile acid metabolism pathway.
Expert opinion on therapeutic targetsPrenatal hydroxychloroquine exposure-induced morphological and functional changes in multiple organs of fetal mice and its characteristics.
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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.
- The esophageal microbiome: mechanisms and clinical implications.
- Hepato-ocular crosstalk: Bile acids bridging pathogenesis and therapy.
- A bile acid-GPBAR1 network supports anti-inflammatory and anti-fibrotic benefits of probiotics in colitis.
- Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.
- Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
- Scytosiphon lomentaria Fucoidan Ameliorates Glucose and Lipid Abnormalities via Modulation of the Microbiota-Gut-Liver/Pancreas Axis: Insights from Multiomics Analysis.
- Tauroursodeoxycholic Acid Inhibits NF-κB/p300/H3K14ac to Attenuate Microglial Activation in Lipopolysaccharide-treated BV-2 Cells and Mice.
- Role of bile acids in the pathogenesis and metabolic abnormalities of polycystic ovary syndrome (PCOS).
- Adipose TGR5 Deletion Promotes Hepatic Steatosis Through Decreasing Adiponectin Secretion in Mice.
- Modulation of the JNK/c-Jun/HSP27 pathway in cardiomyocytes under chronic stress-induced cardiac dysfunction: Therapeutic implications of Tauroursodeoxycholic acid.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79168(Orphanet)
- MONDO:0019218(MONDO)
- GARD:18949(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788540(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