Molecular Genetics and Metabolism Reports最新文献

{"title":"Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases","authors":"Victoria Sokalski , Kolja Lau , Tereza Cairns , Claudia Sommer , Nurcan Üçeyler , Peter Nordbeck","doi":"10.1016/j.ymgmr.2024.101150","DOIUrl":"10.1016/j.ymgmr.2024.101150","url":null,"abstract":"<div><h3>Background</h3><div>The worldwide Covid19 pandemic caused by the rapid spread of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) represented a unique challenge for patients and healthcare professionals. Patients with chronic rare diseases had to face novel burdens, like the inability to perform regular on-site visits or even difficulties in the supply of medication. Patients with Fabry disease (FD) are affected by a variety of organ manifestations leading to physical but also psychological burden and limitations, which are usually presented in low health-related quality of life (HR-QoL). We sought to examine the impact of the Covid19 pandemic on HR-QoL in patients with FD and their implications for the future care of patients with rare diseases.</div></div><div><h3>Methods</h3><div>This single-center study included patients seen shortly prior to and after the peak of the Covid19 pandemic in 2020 at our study site. All patients had a confirmed genetic diagnosis of FD. Subjects with presumed apathogenic to benigne genetic variants in the GLA gene were excluded. The Short Form (36) Health Survey (SF-36) was used to obtain patients‘self-reported outcome. Clinical data and SF-36 scores were collected and analysed for the time period prior to and after the peak of the pandemic.</div></div><div><h3>Results</h3><div>In total, 60 patients (mean age 47.9 ± 15 years, 53.3 % male) were included. The majority presented with a pathogenic gene variant (63.3 %) associated with classic phenotype. At baseline, 66.7 % were on enzyme replacement therapy (ERT), and 21.7 % on chaperone therapy. Predominant organ manifestations were cardiac (42/60, 70.0 %) and neurological (39/60, 65.0 %). After paired comparison prior and post peak of the pandemic in 2020, all eight items of the SF-36 score showed a numeric decline. Three items presented with a intergroup difference: social functioning (72.5 ± 29.3 vs. 64.8 ± 29.3, <em>p</em> = 0.012), energy/fatigue (56.8 ± 21.7 vs. 48.3 ± 23.9, <em>p</em> < 0.001), and role limitations due to physical health (64.2 ± 42.0 vs. 51.1 ± 45.5, <em>p</em> = 0.007).</div><div>Subgroup analysis (regarding gender, age, and treatment) revealed that especially male and older (≥50 years) patients with FD showed reductions in multiple categories of HR-QoL. The item “energy/fatigue“ presented significant declines among all subgroups.</div></div><div><h3>Conclusions</h3><div>The worldwide Covid19 pandemic had a persistent negative affect on self-reported HR-QoL in patients with FD, including both mental and physical aspects. It remains unclear to what extend the disease itself and accompanying circumstances including local and governmental actions and restrictions contributed to these deteriorations. Our findings stress the importance for meticulous and constant interdisciplinary care including psychosocial aspects in patients with chronic progressive diseases as well as the need for a change in mindset concerning futur","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101150"},"PeriodicalIF":1.8,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142441955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between menstrual cycle characteristics, premenstrual syndrome prevalence and blood phenylalanine level in women with PKU","authors":"Arzu Selamioğlu ,&nbsp;Zelal Tandoğan ,&nbsp;Mehmet Cihan Balcı ,&nbsp;Meryem Karaca ,&nbsp;Tuğba Kozanoğlu ,&nbsp;Alihan Yesil ,&nbsp;Gülden Gökçay","doi":"10.1016/j.ymgmr.2024.101154","DOIUrl":"10.1016/j.ymgmr.2024.101154","url":null,"abstract":"<div><div>Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, catalyzing the conversion of phenylalanine (Phe) to tyrosine. Premenstrual syndrome (PMS) consists of physical, behavioral, and emotional symptoms occurring during the last week of luteal phase. The aim of the study was to determine the incidence of PMS, and document menstrual cycle characteristics of PKU patients to reveal the relationship with blood Phe levels. The study was conducted on 74 patients with a mean age of 21.7 ± 5.4 years. The mean age at menarche was 12.7 ± 1.3 years and 82.4 % had regular menstrual cycles. The periods of most patients (47.2 %) lasted 4–5 days. Menstrual cycles of 21–28 days were reported by 73 %, less than 21 days by 8 %, and more than 28 days by 19 % of women. Menorrhagia and dysmenorrhea was observed in 6.7 % and 71.6 % respectively. Adherence to diet was lost in 7 patients during the menstrual period. No significant relationship was found between Phe levels and PMS symptoms (<em>p</em> &gt; 0.05). According to PMSS subscales, 52.7 % of patients with PKU had depressive feelings, 16.2 % anxiety, 55.4 % fatigue, 52.7 % irritability, 28.3 % depressive thoughts, 39.1 % pain, 59.4 % changes in appetite, 28.3 % changes in sleeping habits and 43.2 % had swelling. The findings of the study revealed that PMS prevalence was 39.1 % among PKU women. Awareness about this syndrome, will improve the quality of life in women with PKU by evaluating and taking measures for PMS.</div></div><div><h3>Synopsis</h3><div>Evaluating menstrual cycle characteristics and premenstrual syndrome in phenylketonuria patients provides valuable insights for enhancing their overall health profile and personalizing treatment and management plans.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101154"},"PeriodicalIF":1.8,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142433111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program","authors":"Fuad Al Mutairi ,&nbsp;Randa Alkhalaf ,&nbsp;Abdul Rafiq Khan ,&nbsp;Ali Al Othaim ,&nbsp;Majid Alfadhel","doi":"10.1016/j.ymgmr.2024.101153","DOIUrl":"10.1016/j.ymgmr.2024.101153","url":null,"abstract":"<div><h3>Background</h3><div>Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are frequently observed in newborn screening reports, necessitating consideration of various diseases in the differential diagnosis. This study aimed to analyze different forms of C5OH and explore their potential predictive value for diagnosis and outcomes.</div></div><div><h3>Methods</h3><div>A retrospective review of newborn screening positive cases for C5OH-related diseases from May 2011 to December 2023 was conducted. Clinical, biochemical, and molecular phenotypes of all confirmed positive cases during this period were examined.</div></div><div><h3>Results</h3><div>A total of 15 true positive cases were diagnosed. No significant correlation was found between the C5OH levels in newborn screening and the diagnosis of specific C5OH-related disorders or the presence of metabolic, neonatal, or developmental abnormalities. Outcomes varied based on the spectrum of diseases.</div></div><div><h3>Conclusion</h3><div>These findings indicate that relying solely on C5OH levels from newborn screening is insufficient for making accurate diagnoses or predictions regarding C5OH-related disorders. Further comprehensive evaluation and consideration of additional factors are essential for accurate diagnosis, management and outcome.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101153"},"PeriodicalIF":1.8,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142433109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease","authors":"Hiroshi Kobayashi ,&nbsp;Norio Nakata ,&nbsp;Sayoko Izuka ,&nbsp;Kenichi Hongo ,&nbsp;Masako Nishikawa","doi":"10.1016/j.ymgmr.2024.101152","DOIUrl":"10.1016/j.ymgmr.2024.101152","url":null,"abstract":"<div><div>Fabry disease is the most frequently occurring form of lysosomal disease in Japan, and is characterized by a wide variety of conditions. Primarily, the three major types of concerns associated with Fabry disease observed during adulthood that must be prevented are central nervous system, renal, and cardiac complications. Cardiac complications, such as cardiomyopathy, cardiac muscle fibrosis, and severe arrhythmia, are the most common mortality causes in patients with Fabry disease. To predict cardiac complications of Fabry disease, we extracted RNA from the venous blood of patients for cap analysis of gene expression (CAGE), performed likelihood ratio tests for each RNA expression dataset obtained from individuals with and without cardiac complications, and analyzed the correlation between cardiac functional factors observed using magnetic resonance imaging data extracted using artificial intelligence algorithms and RNA expression. Our findings showed that CHN1 expression was significantly higher in male Fabry disease patients with cardiac complications and that it could be associated with many cardiac functional factors. <em>CHN1</em> encodes a GTPase-activating protein, chimerin 1, which is specific to the GTP-binding protein Rac (involved in oxidative stress generation and the promotion of myocardial fibrosis). Thus, CHN1 is a potential predictive biomarker of cardiac complications in Fabry disease; however, further studies are required to confirm this observation.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101152"},"PeriodicalIF":1.8,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142433110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient voices on PKU care: Insights from focus groups with current and former patients","authors":"Emily Zhu ,&nbsp;Suzanne Hollander ,&nbsp;Stephanie Sacharow","doi":"10.1016/j.ymgmr.2024.101148","DOIUrl":"10.1016/j.ymgmr.2024.101148","url":null,"abstract":"<div><div>Many adults with phenylketonuria (PKU) were discharged from clinics before lifelong treatment guidelines and new therapies. As part of the PKU lost to clinical care study, moderated focus groups were conducted to understand why individuals become lost to care and how to maintain patient engagement. Focus groups involved active clinic patients and those lost to PKU care. Discussions revealed desire for enhanced communication, improved support and access, and community connections.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101148"},"PeriodicalIF":1.8,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142421596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative pharmacokinetics and pharmacodynamics of two formulations of agalsidase beta (agalsidase Biosidus) and Fabrazyme® by intravenous infusion in healthy male volunteers","authors":"Viridiana Berstein ,&nbsp;Eduardo M. Pirotzky ,&nbsp;Hernán D. Taconelli ,&nbsp;M. Gabriela Gobbi ,&nbsp;Lara Beider ,&nbsp;Natali D. Salgueiro ,&nbsp;Laila Dome ,&nbsp;Roberto A. Diez ,&nbsp;Hugo Sotelo ,&nbsp;Sabrina Coppola","doi":"10.1016/j.ymgmr.2024.101149","DOIUrl":"10.1016/j.ymgmr.2024.101149","url":null,"abstract":"<div><div>Fabry disease is a rare X-linked lysosomal condition that leads to the accumulation of glycosphingolipids in various tissues, causing cellular dysfunction, tissue remodeling, progressive fibrosis, and organ failure. The disease results from a deficiency in the human α-galactosidase A enzyme, responsible for breaking down glycosphingolipids like globotriaosylceramide (GL-3 or Gb3) into galactose and dihexose ceramides. In individuals diagnosed with Fabry disease, treatment from 2 years of age onwards typically involves agalsidase beta, the normal recombinant form of the defective enzyme. Agalsidase beta from Biosidus has been developed as a biosimilar to Sanofi-Genzyme's Fabrazyme®. In the molecule's clinical journey, a phase I trial was designed to establish its similarity in terms of pharmacokinetics, pharmacodynamics, and immunogenicity compared to the reference medication. The study was conducted on 24 healthy male volunteers, aged between 18 and 40 years. All volunteers received a single 1 mg/kg bw dose of Fabrazyme® or Biosidus Agalsidase beta by continuous intravenous (IV) infusion over 5 h. The 90 % confidence interval (CI) of the maximum concentration (Cmax), area under the plasma concentration-time curve from time 0 to 12 h (AUC0-12 h) and area under the plasma concentration-time curve extrapolated from time 0 to infinity (AUC0-∞) ratios fell within the accepted range of 80–125 %. No differences were detected in adverse effects or antibody induction. This indicates that Biosidus agalsidase beta meets the criteria for being considered similar to the reference formulation Sanofi Genzyme's Fabrazyme®.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101149"},"PeriodicalIF":1.8,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142421594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition","authors":"Kimberly M. Ezell ,&nbsp;Yutaka Furuta ,&nbsp;Devin Oglesbee ,&nbsp;Eniko K. Pivnick ,&nbsp;David Rinker ,&nbsp;Jonathan H. Sheehan ,&nbsp;Rory J. Tinker ,&nbsp;Rizwan Hamid ,&nbsp;Joy D. Cogan ,&nbsp;Lynette Rives ,&nbsp;Serena Neumann ,&nbsp;Brian Corner ,&nbsp;Mary Koziura ,&nbsp;John A. Phillips III ,&nbsp;the Undiagnosed Diseases Network","doi":"10.1016/j.ymgmr.2024.101145","DOIUrl":"10.1016/j.ymgmr.2024.101145","url":null,"abstract":"<div><div>Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# <span><span>619714</span><svg><path></path></svg></span>) is caused by a heterozygous mutation in the <em>STT3A</em> gene. Most CDGs have an autosomal recessive (AR) mode of inheritance, but several cases with an autosomal dominant (AD) form of an AR CDG have been recently identified. This report describes a 17-year-old male who was referred to the Undiagnosed Diseases Network (UDN) with a history of macrocephaly, failure to thrive, short stature, epilepsy, autism, attention-deficit/hyperactivity disorder, mild developmental delay, intermittent hypotonia, dysmorphic features, and mildly enlarged aortic root. Trio exome sequencing was negative. His biochemical workup included normal plasma amino acids, ammonia, acylcarnitine profile and urine organic and amino acids. His UDN genome sequencing (GS) identified a previously unreported <em>de novo STT3A</em> variant (c.1631A &gt; G: p.Asn544Ser). This variant removes a glycosylation site and was predicted to be destabilizing by structural biology modeling. The patient was formally diagnosed by the UDN Metabolomics Core as having an abnormal transferrin profile indicative of CDG type Iw through metabolomic profiling. We report here an affected male with phenotypic, molecular, and metabolic findings consistent with CDG type Iw due to a heterozygous <em>STT3A</em> variant. This case highlights the importance of further testing of individuals with the phenotypic and metabolic findings of an AR disorder who are heterozygous for a single disease-causing allele and can be shown to have a new AD form of the disorder that represents clinical heterogeneity.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101145"},"PeriodicalIF":1.8,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142421593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature","authors":"Chih-Hsuan Lu ,&nbsp;Chia-Feng Yang ,&nbsp;Yun-Ru Chen ,&nbsp;Yann-Jang Chen ,&nbsp;Yung-Hsiu Lu ,&nbsp;Dau-Ming Niu","doi":"10.1016/j.ymgmr.2024.101151","DOIUrl":"10.1016/j.ymgmr.2024.101151","url":null,"abstract":"<div><div>Recurrent rhabdomyolysis, marked by skeletal muscle breakdown, can stem from various causes, including genetic disorders. We detail a patient of a 22-year-old male with carnitine palmitoyltransferase II (CPT-2) deficiency manifesting recurrent rhabdomyolysis despite normal acylcarnitine profiles. Whole-genome sequencing identified two <em>CPT2</em> gene variants: c.338C &gt; T and c.482G &gt; A, confirming the diagnosis. We conducted a case report and a comprehensive literature review encompassing 262 articles related to CPT-2 deficiency available on PubMed. The review detailed 245 cases across various forms, including lethal neonatal, severe infantile hepatocardiomuscular, and myopathic forms. The study highlighted the variability and complexity of CPT-2 deficiency phenotypes, emphasizing correlations between variants and phenotypes as well as gender distribution. Although the CPT-2 deficiency genotype does not entirely predict phenotype severity, it remains informative for most patients, assisting in assessing the severity linked to each genetic variant. The results of our study offer crucial insights into evaluating the severity associated with individual genetic variants. Notably, our patient displayed normal acylcarnitine profiles between illness episodes, indicating possible profile abnormalities only during active disease states.</div><div>We propose the collection of additional blood samples for acylcarnitine analysis during episodes of rhabdomyolysis without delay in all patients presenting with rhabdomyolysis of unknown cause as a crucial diagnostic strategy. This approach may unveil unexpected underlying diseases, enabling early and accurate diagnoses.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101151"},"PeriodicalIF":1.8,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142421595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Compensation for metabolic dietitians practicing in the United States: 2023 genetic metabolic dietitians international professional status survey","authors":"Krista Viau ,&nbsp;Sommer Gaughan ,&nbsp;Jessica Kopesky ,&nbsp;Beth Ogata ,&nbsp;Heather Saavedra ,&nbsp;Mary Sowa ,&nbsp;Erin MacLeod","doi":"10.1016/j.ymgmr.2024.101147","DOIUrl":"10.1016/j.ymgmr.2024.101147","url":null,"abstract":"<div><h3>Background</h3><div>Genetic Metabolic Dietitians International (GMDI) conducted a professional status survey of metabolic dietitians working in the United States to describe job satisfaction and establish salary and compensation benchmarks specific to metabolic dietitians.</div></div><div><h3>Methods</h3><div>The survey was anonymously administered in a web-based format via REDCap between October and November 2023. Registered dietitians working with inborn errors of metabolism (IEM) were eligible to participate.</div></div><div><h3>Results</h3><div>A total of 178 surveys were received and 147 were included in the final analysis. Most respondents were female (96 %), worked in a clinical setting (83 %), and held a graduate degree (75 %), while 30 % had one or more board certifications and 8 % were faculty. Respondents specialized in genetic metabolic nutrition for a median of 6 years (IQR 2–15). Overall satisfaction with one's professional focus in IEM was high among respondents (87 %), though 40 % reported dissatisfaction with earnings potential in their current position.</div><div>The median annual, full-time salary for US-based metabolic dietitians in all work settings was $80,400 (IQR $67,100-96,000). After excluding dietitians working in the pharmaceutical and/or nutrition industry (<em>n</em> = 14), the median annual salary decreased to $76,200 (IQR $66,700-91,000). Increased years' experience, responsibility (e.g., supervisor), expertise (i.e., board certification), and categorization as a Level II dietitian or higher were associated with higher annual salary.</div></div><div><h3>Conclusion</h3><div>The results of the 2023 GMDI Professional Status Survey provide insight into the current compensation and benefits of metabolic dietitians practicing in the US. These data can be used to support individual efforts to secure equitable compensation for the metabolic dietitian's critical role in the medical nutrition therapy for individuals with IEM.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101147"},"PeriodicalIF":1.8,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142357434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report","authors":"Amber Van Baelen ,&nbsp;Stijn Verhulst ,&nbsp;François Eyskens","doi":"10.1016/j.ymgmr.2024.101144","DOIUrl":"10.1016/j.ymgmr.2024.101144","url":null,"abstract":"<div><div>Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in the literature, a new and highly effective treatment option for children.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101144"},"PeriodicalIF":1.8,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142326579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}