Evidence
Intern Med. 2024 Jul 4. doi: 10.2169/internalmedicine.3673-24. Online ahead of print.
ABSTRACT
A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson’s disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient’s other allele and was considered a novel mutation, classified as ‘likely pathogenic’ according to the American College of Medical Genetics guidelines.
PMID:38960689 | DOI:10.2169/internalmedicine.3673-24
Estimated reading time: 2 minute(s)
Latest: Psychiatryai.com #RAISR4D Evidence
Cool Evidence: Engaging Young People and Students in Real-World Evidence
Real-Time Evidence Search [Psychiatry]
AI Research
A Case of Wilson’s Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis
🌐 90 Days
AI Virtual Reality Related Evidence Matrix
- Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene
- Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update
- Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update
- Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure
- Deadly excess copper
- Non-invasive Scores and Serum Biomarkers for Fatty Liver in the Era of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD): A Comprehensive Review From NAFLD to MAFLD and MASLD
- Non-invasive Scores and Serum Biomarkers for Fatty Liver in the Era of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD): A Comprehensive Review From NAFLD to MAFLD and MASLD
- The C886T Mutation in the Th Gene Reduces the Activity of Tyrosine Hydroxylase in the Mouse Brain
- Association between sleep duration and a new onset of nonalcoholic fatty liver disease
- The Role of Copper Overload in Modulating Neuropsychiatric Symptoms
- Increased hepatoprotective effects of the novel farnesoid X receptor agonist INT-787 versus obeticholic acid in a mouse model of nonalcoholic steatohepatitis
- A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
- Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder
- Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder
- Metabolic Dysfunction-Associated Steatotic Liver Disease in Severe Obesity and Concordance Between Invasive (Biopsy) and Non-Invasive (OWLiver®) Diagnoses
- Pathophysiological Features of Rat Models of Nonalcoholic Fatty Liver Disease/Nonalcoholic Steatohepatitis
- Investigation of Markedly Elevated Liver Enzymes With Serendipitous Underlying Wilson's Disease With Chronic Alcohol Abuse
- Neuropsychiatric Systemic Lupus Erythematosus in a Patient with Pancytopenia and Chronic Schizophrenia Requiring Hospitalisation
- EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD)
- Blood Level of Nitric Oxide Metabolites and Expression of Genes Regulating NO Synthesis in Early Forms of Non-Alcoholic Fatty Liver Disease
- Blood Level of Nitric Oxide Metabolites and Expression of Genes Regulating NO Synthesis in Early Forms of Non-Alcoholic Fatty Liver Disease
- Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
- Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
- Distinctive Pattern of Metal Deposition in Neurologic Wilson Disease: Insights From 7T Susceptibility-Weighted Imaging
- Resistance to anti-EGFR through the successive and cumulative acquisition of two new oncogenic addictions: BRAF and ALK
- Novel blood and tissue-based mitochondrial D-loop mutations detected in an Iranian NAFLD patient cohort
- The Role of PNPLA3_rs738409 Gene Variant, Lifestyle Factors, and Bioactive Compounds in Nonalcoholic Fatty Liver Disease: A Population-Based and Molecular Approach towards Healthy Nutrition
- Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review
- Spatial genomics: mapping human steatotic liver disease
- Autism patient-derived SHANK2B(Y29X) mutation affects the development of ALDH1A1 negative dopamine neuron
- Autism patient-derived SHANK2B(Y29X) mutation affects the development of ALDH1A1 negative dopamine neuron
- The fatty acid omega hydroxylase genes (CYP4 family) in the progression of metabolic dysfunction-associated steatotic liver disease (MASLD): An RNA sequence database analysis and review
- Generation of induced pluripotent stem cells (NIMHi015-A) from a Parkinson's Disease patient harbouring a homozygous Exon 3 deletion in the PRKN gene
- Parkinson's Disease Associated with G2019S LRRK2 Mutations without Lewy Body Pathology
- Primary versus secondary psychosis in a patient with congenital liver disease
- Primary versus secondary psychosis in a patient with congenital liver disease
- AMPED study: Protocol for a randomized controlled trial of different doses of aerobic exercise training
- MAFLD in adults: non-invasive tests for diagnosis and monitoring of MAFLD
- Nonalcoholic steatohepatitis: A comprehensive updated review of risk factors, symptoms, and treatment
- Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene
- Exploring the interconnected between type 2 diabetes mellitus and nonalcoholic fatty liver disease: Genetic correlation and Mendelian randomization analysis
- Global perspective on nonalcoholic fatty liver disease and nonalcoholic steatohepatitis - prevalence, clinical impact, economic implications and management strategies
- Changes in the terminology and diagnostic criteria of non-alcoholic fatty liver disease: Implications and opportunities
- Impact of Transgenerational Nutrition on Nonalcoholic Fatty Liver Disease Development: Interplay between Gut Microbiota, Epigenetics and Immunity
- MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report
- A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review
- Liver cirrhosis in a patient with alcohol dependence and autoimmune hepatitis
- A Systematic Review of Statins for the Treatment of Nonalcoholic Steatohepatitis: Safety, Efficacy, and Mechanism of Action
- Guidelines for the prevention and treatment of metabolic dysfunction-associated (non-alcoholic) fatty liver disease (Version 2024)
- Guidelines for the prevention and treatment of metabolic dysfunction-associated (non-alcoholic) fatty liver disease (Version 2024)
- Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: a case report on neurodevelopmental phenotypes and mitochondrial inheritance
- Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: a case report on neurodevelopmental phenotypes and mitochondrial inheritance
- Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation
- Galectin-3 and Severity of Liver Fibrosis in Metabolic Dysfunction-Associated Fatty Liver Disease
- Genome-wide association study of metabolic dysfunction-associated fatty liver disease in a Korean population
- From non-alcoholic fatty liver disease to metabolic-associated steatotic liver disease: Rationale and implications for the new terminology
- Correlation of alanine aminotransferase levels and a histological diagnosis of steatohepatitis with ultrasound-diagnosed metabolic-associated fatty liver disease in patients from a centre in Nigeria
- The role of EEG and neuroimaging in the diagnosis of non-convulsive status epilepticus in Subacute Encephalopathy with Seizures in Alcoholics (SESA syndrome): a case report and overview of the literature
- The role of EEG and neuroimaging in the diagnosis of non-convulsive status epilepticus in Subacute Encephalopathy with Seizures in Alcoholics (SESA syndrome): a case report and overview of the literature
- Liver-specific mitochondrial amidoxime-reducing component 1 (Mtarc1) knockdown protects the liver from diet-induced MASH in multiple mouse models
- In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model
- Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene
- Depletion of Activated Hepatic Stellate Cells and Capillarized Liver Sinusoidal Endothelial Cells Using a Rationally Designed Protein for Nonalcoholic Steatohepatitis and Alcoholic Hepatitis Treatment
- Role of gut microbiota and immune cells in metabolic-associated fatty liver disease: clinical impact
Evidence Blueprint
A Case of Wilson’s Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis
☊ AI-Driven Related Evidence Nodes
(recent articles with at least 5 words in title)
More Evidence
A Case of Wilson’s Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis
🌐 365 Days
AI Virtual Reality Related Evidence Matrix
- Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene
- Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update
- Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update
- X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement
- Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure
- Deadly excess copper
- Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease
- Identification of Key Biomarkers in Hepatocellular Carcinoma Induced by Non-alcoholic steatohepatitis or Metabolic Syndrome via Integrated Bioinformatics Analysis
- Non-invasive Scores and Serum Biomarkers for Fatty Liver in the Era of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD): A Comprehensive Review From NAFLD to MAFLD and MASLD
- Non-invasive Scores and Serum Biomarkers for Fatty Liver in the Era of Metabolic Dysfunction-associated Steatotic Liver Disease (MASLD): A Comprehensive Review From NAFLD to MAFLD and MASLD
- The C886T Mutation in the Th Gene Reduces the Activity of Tyrosine Hydroxylase in the Mouse Brain
- Association between sleep duration and a new onset of nonalcoholic fatty liver disease
- The Role of Copper Overload in Modulating Neuropsychiatric Symptoms
- Screening, Diagnosis, and Staging of Non-Alcoholic Fatty Liver Disease (NAFLD): Application of Society Guidelines to Clinical Practice
- Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation
- Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation
- The Value of Liver Biopsy and Histology in Liver Disease Diagnosis and Patient Care-a Pragmatic Prospective Clinical Practice Study
- Staphylococcus Aureus Lip Infection
- Bilateral External Ophthalmoplegia Induced by Herpes Zoster Ophthalmicus
- Nonalcoholic Fatty Liver Disease and Continuous Metabolic Syndrome in Adolescents with Overweight/Obesity
- Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology
- A Cerebral Embolism Caused by a Malignant Peripheral Nerve Sheath Tumor in a Patient with Neurofibromatosis Type 1
- Aminoacylase 1 deficiency: case report on three affected siblings
- Increased hepatoprotective effects of the novel farnesoid X receptor agonist INT-787 versus obeticholic acid in a mouse model of nonalcoholic steatohepatitis
- A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
- ACLY as a modulator of liver cell functions and its role in Metabolic Dysfunction-Associated Steatohepatitis
- Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder
- Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder
- Metabolic Dysfunction-Associated Steatotic Liver Disease in Severe Obesity and Concordance Between Invasive (Biopsy) and Non-Invasive (OWLiver®) Diagnoses
- Pathophysiological Features of Rat Models of Nonalcoholic Fatty Liver Disease/Nonalcoholic Steatohepatitis
- Investigation of Markedly Elevated Liver Enzymes With Serendipitous Underlying Wilson's Disease With Chronic Alcohol Abuse
- Neuropsychiatric Systemic Lupus Erythematosus in a Patient with Pancytopenia and Chronic Schizophrenia Requiring Hospitalisation
- Familial Alzheimer's disease associated with heterozygous NPC1 mutation
- EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD)
- Semaglutide alters gut microbiota and improves NAFLD in db/db mice
- Child Neurology: Mucopolysaccharidosis IIID: Evidence From Ultrastructural and Genomic Study
- The Influence of Emodin Succinyl Ethyl Ester on Non-Alcoholic Steatohepatitis Induced by a Diet High in Fructose, Cholesterol, and Fat in Mice
- Blood Level of Nitric Oxide Metabolites and Expression of Genes Regulating NO Synthesis in Early Forms of Non-Alcoholic Fatty Liver Disease
- Blood Level of Nitric Oxide Metabolites and Expression of Genes Regulating NO Synthesis in Early Forms of Non-Alcoholic Fatty Liver Disease
- Dilated cardiomyopathy: causes, mechanisms, and current and future treatment approaches
- Macrophage heterogeneity role in NAFLD and NASH disease progression
- Targeting hepatic ceruloplasmin mitigates nonalcoholic steatohepatitis by modulating bile acid metabolism
- Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
- Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
- Distinctive Pattern of Metal Deposition in Neurologic Wilson Disease: Insights From 7T Susceptibility-Weighted Imaging
- A case of Adult-onset Acute Flaccid Myelitis Accompanied by Rhombencephalitis which First Presented with Prominent Psychiatric Symptoms and Dysautonomia Mimicking Anti-N-methyl-d-aspartate Receptor Encephalitis
- Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report
- The Correlation Between Serum Copper and Non-alcoholic Fatty Liver Disease in American Adults: an Analysis Based on NHANES 2011 to 2016
- Hormone action and liver disease, a complex interplay
- Resistance to anti-EGFR through the successive and cumulative acquisition of two new oncogenic addictions: BRAF and ALK
- The pleiotropic approach to coronavirus disease-19 pathogenesis: The impact of liver diseases associated host genetic variants
- Novel blood and tissue-based mitochondrial D-loop mutations detected in an Iranian NAFLD patient cohort
- Effects of (20 R)-Panaxadiol on NAFLD using non‑targeted metabolomics in stool
- FMO2 ameliorates nonalcoholic fatty liver disease by suppressing ER-to-Golgi transport of SREBP1
- The Role of PNPLA3_rs738409 Gene Variant, Lifestyle Factors, and Bioactive Compounds in Nonalcoholic Fatty Liver Disease: A Population-Based and Molecular Approach towards Healthy Nutrition
- Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene
- Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings
- Genetic Instability and Disease Progression of Indian Rett Syndrome Patients
- Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review
- Spatial genomics: mapping human steatotic liver disease
- Therapeutic effect of long-acting FGF21 with controlled site-specific modification on nonalcoholic steatohepatitis
- Identification of a DLG3 stop mutation in the MRX20 family
- THE GLOBAL EPIDEMIOLOGY OF NON-ALCOHOLIC FATTY LIVER DISEASE AND NON-ALCOHOLIC STEATOHEPATITIS AMONG PATIENTS WITH TYPE 2 DIABETES
- Autism patient-derived SHANK2B(Y29X) mutation affects the development of ALDH1A1 negative dopamine neuron