Journal of Inherited Metabolic Disease最新文献

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148093946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148092463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148089940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148087522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148080479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148079644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders","authors":"Curtis R. Coughlin II,&nbsp;John Barber,&nbsp;Chaya N. Murali,&nbsp;Members of the Urea Cycle Disorders Consortium (UCDC),&nbsp;Greta Wilkening","doi":"10.1002/jimd.70183","DOIUrl":"10.1002/jimd.70183","url":null,"abstract":"<p>Multiple studies have assessed Health-Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self-reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints required to assess efficacy. This was an ambispective study of participants enrolled in the Longitudinal Study of Urea Cycle Disorders (NCT00237315) conducted by the Urea Cycle Disorders Consortium (UCDC). Inclusion criteria included age ≥ 18 years and at least one completion of one of five HRQoL patient-reported outcome measures (PROMs). A total of 144 participants met inclusion criteria. Covariates included age at last assessment, sex at birth, specific UCD subtype, symptomatic status, treatments, and disease severity<i>.</i> The enrollees' self-reported HRQoL <i>T</i>-scores were not significantly different from the normative population. Whereas participants categorized as asymptomatic differed from those categorized as symptomatic in terms of disease severity, age at last HRQoL, and full-scale IQ, overall HRQoL did not differ. A model including age, sex, specific UCD subtype, symptomatic status, and disease severity revealed that perceived cognitive function was related to specific UCD subtype, while Anxiety and Emotional and Behavioral Dyscontrol were associated with sex at birth. When post-liver transplant participants were excluded, the pattern of associations was unchanged. Among adults with UCDs, responses on HRQoL measures revealed no significant differences in HRQoL when compared to normative populations. Cognitive reserve did not moderate the impact of diagnosis or treatment. Additional work in understanding and measuring HRQoL in this population is required.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13064420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Accuracy of Exchangeable Copper for Grading the Severity of Wilson Disease","authors":"Clément Desjardins,&nbsp;Nouzha Oussedik-Djebrani,&nbsp;Mickael Alexandre Obadia,&nbsp;Djamila Rahli,&nbsp;Chloé Le Cossec,&nbsp;France Woimant,&nbsp;Dominique Debray,&nbsp;Aurélia Poujois","doi":"10.1002/jimd.70178","DOIUrl":"10.1002/jimd.70178","url":null,"abstract":"<div>\u0000 \u0000 <p>Wilson disease (WD) diagnosis remains challenging due to variable biomarker performance across clinical presentations. Exchangeable copper (CuEXC) directly quantifies non-ceruloplasmin-bound copper (NCC), the pathogenic copper fraction. We assessed the diagnostic accuracy of CuEXC across WD phenotypes and its utility for evaluating disease severity. In this prospective study (NCT05231876) at the French National Reference Center for WD, we enrolled 158 treatment-naïve patients (48% female; mean age 20 ± 14 years; 44% ≤ 18 years) referred between 2009 and 2025. Clinical presentations included asymptomatic (<i>n</i> = 11), hepatic (<i>n</i> = 87), and neurologic (<i>n</i> = 60). CuEXC was measured at diagnosis and compared against ceruloplasmin, total copper, relative exchangeable copper (REC), and 24-h urinary copper using ROC analysis. Seven patients with hemolytic anemia uniformly associated with acute liver failure had extreme CuEXC elevations (median 11.0 μmol/L) and were excluded from ROC analyses. CuEXC increased stepwise across phenotypes (0.8, 1.6, and 2.9 μmol/L; <i>p</i> &lt; 0.001). CuEXC distinguished advanced from mild-to-moderate liver disease (AUC 0.86; 95% CI, 0.82–0.89; optimal threshold 1.8 μmol/L: sensitivity 83%, specificity 87%) and differentiated neurologic from hepatic presentations (AUC 0.87; 95% CI, 0.80–0.93; optimal threshold 2.07 μmol/L: sensitivity 88%, specificity 81%; pragmatic cutoff 2.0 μmol/L: sensitivity 91%, specificity 80%). Performance was consistent across age groups. CuEXC outperformed other biomarkers in head-to-head comparisons. After excluding hemolysis, CuEXC ≥ 1.8 μmol/L supports screening for advanced liver disease, even without clinical or laboratory liver abnormalities. CuEXC ≥ 2.0 μmol/L warrants expedited neurologic assessment and may help distinguish neuro Wilson from hepatic encephalopathy. CuEXC enhances early risk stratification for timely intervention in WD.</p>\u0000 </div>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review","authors":"Eileen M. Gillan,&nbsp;Beth Leiro,&nbsp;Amanda Nagy,&nbsp;Florian Eichler,&nbsp;Elise L. Townsend","doi":"10.1002/jimd.70179","DOIUrl":"10.1002/jimd.70179","url":null,"abstract":"<div>\u0000 \u0000 <p>Caregiver-reported outcome measures (CROMs) complement clinical assessments of neurodevelopmental functions (NDF) in pediatric rare disease trials. This scoping review summarizes use of CROMs of NDF across bodily function, activity, and participation domains of the International Classification of Functioning, Disability, and Health (ICF) model in pediatric lysosomal storage disorders (LSDs), characterizes assessed neurodevelopmental domains, and outlines considerations for CROM selection within a comprehensive functional assessment strategy. We applied JBI methodology and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). Primary articles reporting CROM of NDF use in children with LSDs ≤ 12 years old were identified. Study characteristics, design, and CROMs utilized were extracted. CROMs were classified as condition-general or disease-specific. CROM content was mapped to neurodevelopmental domains (activities of daily living [ADL], cognition, communication, physical, social–emotional function). Ninety-eight articles published in the last 10 years reported on 38 distinct CROMs of NDF across &gt; 20 LSDs. Nearly all studies (93%) used ≥ 1 condition-general CROM of NDF, most commonly the Vineland Adaptive Behavioral Scales or the Pediatric Quality of Life Inventory. Eleven disease-specific CROMs were reported, typically alongside condition-general measures. Physical, ADL, and social–emotional domains were indexed most consistently. CROMs were endpoints in 32 LSD clinical trials. Findings illustrate the variety and common trends of CROMs of NDF used in pediatric LSD studies. This review informs selection of complementary caregiver-reported endpoints in LSD trials based on a well-defined, clinically meaningful construct; alignment with other endpoints and expert consensus; and operational practicality.</p>\u0000 </div>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF","authors":"Stine Christ,&nbsp;Julia Rossmann,&nbsp;Sylvia Richter,&nbsp;Sven Garbade,&nbsp;Glynis Klinke,&nbsp;Nenad Blau,&nbsp;Georg Friedrich Hoffmann,&nbsp;Jürgen Günther Okun,&nbsp;Thomas Opladen","doi":"10.1002/jimd.70167","DOIUrl":"10.1002/jimd.70167","url":null,"abstract":"<p>Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics. To improve diagnosis the aim is to establish a liquid chromatography–tandem mass spectrometry (LC–MS/MS) based CSF panel (NeuroMetabolom) which enables a quick, reliable, extensive and cheap method requiring small amounts of analysis material replacing classical single platform analyses. The novel LC–MS/MS NeuroMetabolom method enables measuring all known standard metabolites in CSF, including purines/pyrimidines, sepiapterin, γ-Aminobutyric acid (GABA), and vitamin B₆ metabolites, with significantly reduced sample volume and measurement time. Due to their different biochemical interactions several runs with different sample preparation, running time and columns are necessary within the LC–MS/MS. Age-dependent reference values have been established. Positive controls with consistently detectable metabolite patterns were used to assess analytical reliability. The method has been implemented into routine diagnostics practice. The LC–MS/MS panel enables a simple, comprehensive, and rapid diagnostic approach, reducing time to diagnosis and facilitating early initiation of treatment. Instead of 650 μL, only 250 μL CSF is now required and the analysis time for all metabolites is reduced from 280 to 65.3 min excluding preparation and setup time. Furthermore, the panel is adaptable and can be regularly expanded to include additional clinically relevant metabolites. The novel LC–MS/MS panel, together with a neurometabolomic approach, offers a promising avenue to timely clinical diagnosis.</p><p><b>Trial Registration:</b> German Clinical Trials Register: DRKS00007878</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"49 3","pages":""},"PeriodicalIF":3.8,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13053135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}