Molecular Genetics and Metabolism Reports最新文献

{"title":"Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools","authors":"Fei Li ,&nbsp;Qin Cai ,&nbsp;Wei Ji ,&nbsp;Miao Xu ,&nbsp;Guoli Tian ,&nbsp;Fanyi Zeng","doi":"10.1016/j.ymgmr.2025.101208","DOIUrl":"10.1016/j.ymgmr.2025.101208","url":null,"abstract":"<div><div>Carbamoyl phosphate synthetase I (CPS1) deficiency is a rare autosomal recessive metabolic abnormality cause by dysfunctionality of CPS1 and often result in unfavorable outcome. In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous variants of CPS1, c.1927 A &gt; G (p.Asn643Asp), c.2375 T &gt; G (p.Met792Arg), c.3443 T &gt; A (p.Met1148Lys) in patient 1; c.3784C &gt; T (p.Arg1262Ter), c.3734 T &gt; A (p.Leu1245His) in patient 2, respectively. c.1927 A &gt; G (p.Asn643Asp) and c.2375 T &gt; G (p.Met792Arg) are novel out of 5 variants and classified as variants of uncertain significance (VUS) under the guidelines of ACMG/AMP-ClinGen. Structure-based analysis of 4 missense variants indicates deleterious alterations to the protein. Since the employment of genetic testing as a clinical diagnostic tool, distinguishing pathogenic from polymorphic changes poses significant problems for geneticists. As recommendation for PP3/BP4, the computational tools for missense variant have been published, we performed a comparative evaluation for pathogenicity interpretation in our patients and in ClinVar database regarding CPS1 missense variants under the updated guidelines of ACMG/AMP-ClinGen. The application of computational tools under the ACMG/AMP-ClinGen criteria revealed an increased sensitivity for pathogenicity evaluation, from variants of uncertain significance (VUS) to likely pathogenic (LP) in previously reported cases; while for variants without clinic information in the ClinVar database, the pathogenicity assessment of VUS remained, and shows a more optimistic and reliable clinical application in molecular diagnosis.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101208"},"PeriodicalIF":1.8,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685375","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":"Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease","authors":"Miriam Gendive ,&nbsp;Teresa C. Delgado ,&nbsp;María Unceta ,&nbsp;Arantza Arza ,&nbsp;Beatriz Sordo ,&nbsp;Aritza Segurola ,&nbsp;Javier De las Heras","doi":"10.1016/j.ymgmr.2025.101207","DOIUrl":"10.1016/j.ymgmr.2025.101207","url":null,"abstract":"<div><div>Infantile-onset Pompe disease is a lysosomal disease characterized by cardiomyopathy and muscle weakness that, without specific treatment, is fatal within the first two years of life. We present the case of an infant who developed anaphylaxia to enzyme replacement therapy with alglucosidase-alfa. We provide a desensitization protocol to alglucosidase-alfa and, for the first time, a desensitization protocol to avalglucosidase-alfa, both delivered in a reasonable time of &lt;6 h, and without any further reactions in the patient.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101207"},"PeriodicalIF":1.8,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685376","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":"FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia","authors":"Ayça Burcu Kahraman ,&nbsp;Halil Çelik ,&nbsp;Zafer Bagci ,&nbsp;Abdullah Sezer ,&nbsp;Mustafa Kılıç","doi":"10.1016/j.ymgmr.2025.101206","DOIUrl":"10.1016/j.ymgmr.2025.101206","url":null,"abstract":"<div><h3>Introduction</h3><div>FBXL4- related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is caused by pathogenic variants in the <em>FBXL4</em> gene, resulting in mitochondrial dysfunction and multisystem involvement. Hyperammonemia is reported in 45 % of cases but extremely elevated ammonia levels are rare.</div></div><div><h3>Case presentation</h3><div>A male infant presented with dysmorphic features, hypotonia, failure to thrive, and lactic acidosis and severe hyperammonemia (ammonia: 1495 μmol/L). Genetic testing identified a homozygous <em>FBXL4</em> pathogenic variant.</div></div><div><h3>Conclusion</h3><div>To our knowledge, this report presents a neonatal case of FBXL4-related mtDNA depletion syndrome with the highest hyperammonemia level. This case emphasizes the importance of <em>FBXL4</em> genetic testing in neonates with multisystem involvement, hyperammonemia, and dysmorphic features.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101206"},"PeriodicalIF":1.8,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628615","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":"An 18-month-old girl with Vici syndrome: A case report study","authors":"Parsa Forouhar ,&nbsp;Mohammad Amin Eghtedari ,&nbsp;Maryam Taraz ,&nbsp;Mahsa Abdullahpour ,&nbsp;Mohammad Mehrpouyan ,&nbsp;Zhale Askarzade","doi":"10.1016/j.ymgmr.2025.101205","DOIUrl":"10.1016/j.ymgmr.2025.101205","url":null,"abstract":"<div><div>We report an 18-month-old female diagnosed with Vici syndrome, a rare congenital disorder characterized by developmental delay, albinism, cataracts, agenesis of the corpus callosum, hypotonia, and immunological anomalies. The patient, the second child of healthy first-cousin parents, presented with hypotonia at birth and subsequently developed bilateral cataracts, feeding difficulties, and multiple systemic manifestations, including kidney, bladder, and gallstones, as well as cardiomegaly and seizures. Genetic testing identified homozygous mutations in the EPG5 gene, confirming the diagnosis of Vici syndrome. The cardiac evaluation revealed a unique finding: serial echocardiograms initially detected multiple masses, which later regressed spontaneously, suggestive of a cardiac rhabdomyoma.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101205"},"PeriodicalIF":1.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143611308","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":"A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure","authors":"Dogan Barut ,&nbsp;Emine Burçe Dörtkardeşler ,&nbsp;Miray Karakoyun ,&nbsp;Ebru Canda ,&nbsp;Huseyin Onay ,&nbsp;Sema Aydogdu","doi":"10.1016/j.ymgmr.2025.101204","DOIUrl":"10.1016/j.ymgmr.2025.101204","url":null,"abstract":"<div><div><em>SLC44A1</em> gene variants (MIM # 618868) are associated with a choline transporter deficiency with a rare autosomal recessive genetic disorder characterized by neurodegeneration, childhood-onset with ataxia, tremor, optic atrophy, and cognitive decline. Variants in the <em>SLC44A1</em> gene are considered to be responsible for the syndrome. We reported a four-month-old baby with neonatal cholestasis and liver failure, but neurological development and examination were normal. During the patient's initial physical examination, height, weight, and head circumference were &lt; −2 SDS. He was alert, with eye tracking and a smile present, appeared icteric, and exhibited hepatosplenomegaly, with a history of second-degree consanguinity between his parents. The patient showed signs of neonatal jaundice, elevated transaminases, and episodes of hypoglycemia. After excluding biliary atresia, tyrosinemia, and other metabolic diseases, mitochondrial hepatopathy, vascular pathologies, and congenital infectious diseases through all standard examinations for neonatal cholestasis, a genetic analysis test and whole exome analysis were conducted. Molecular analysis of the whole exome revealed a novel inherited mutation, one inherited from each parent. This novel variant in the SLC44A1 gene is c.1632 + 1G &gt; A. A thorough physical examination and laboratory tests should be conducted for patients presenting with neonatal cholestasis. Subsequently, whole exome analysis from the parents identified the same mutation as heterozygous c.1632 + 1G &gt; A in the SLC44A1 gene. Genetic examinations should be considered in patients whose cause remains undetermined, particularly when there is a family history.</div></div><div><h3>Conclusion</h3><div>We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101204"},"PeriodicalIF":1.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143592980","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":"Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation","authors":"Kazuhiro Yokota ,&nbsp;Akira Ohtake ,&nbsp;Taro Yamazaki ,&nbsp;Takuma Tsuzuki-Wada ,&nbsp;Megumi Saito-Tsuruoka ,&nbsp;Takuya Fushimi ,&nbsp;Kei Murayama ,&nbsp;Yuji Akiyama ,&nbsp;Toshihide Mimura","doi":"10.1016/j.ymgmr.2025.101200","DOIUrl":"10.1016/j.ymgmr.2025.101200","url":null,"abstract":"<div><div>Carbamoyl phosphate synthetase 1 (CPS1) deficiency (OMIM#<span><span>237300</span><svg><path></path></svg></span>) is a rare inherited disorder due to complete or partial lack of the CPS1 enzyme. Polymyositis is a relatively rare systemic inflammatory autoimmune disease. Here, we report a 59-year-old Japanese woman diagnosed with late-onset CPS1 deficiency during polymyositis treatment. The polymyositis appeared two years before the diagnosis of CPS1 deficiency. Prednisolone (PSL) at 35 mg/day initial dosage, promptly alleviated the symptoms. However, the patient, without apparent cause, suddenly developed confusion progressing to unconsciousness and coma. Upon admission, the patient’s plasma ammonia levels were 458 μg/dL (269 μM). Plasma amino acid analysis revealed decreased citrulline levels and elevated glutamine levels. Genetic analysis of <em>CPS1</em> (OMIM *608307) showed homozygosity for the likely pathogenic variant c.2397G &gt; A (p.Met799Ile), leading to the diagnosis of CPS1 deficiency. The patient responded to pharmacotherapy and continuous hemodialysis. However, the patient experienced hyperammonemia decompensation events while on pharmacotherapy at home, which were successfully managed with emergency treatment and/or hemodialysis. Subsequently, after liver transplantation, the patient's plasma ammonia levels consistently remained at normal. This case illustrates late-onset CPS1 deficiency manifested in an adult treated with PSL for polymyositis, and the cure of its enzyme deficiency by live-donor liver transplantation.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101200"},"PeriodicalIF":1.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549698","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":"Our lives with PKU: German patient voices - “Nothing about us without us”","authors":"Karin Lange ,&nbsp;Jens Böhmer ,&nbsp;Yvonne Deich ,&nbsp;Daniel Dickneite ,&nbsp;Pascale Fuchs ,&nbsp;Verena Naunheim ,&nbsp;Angelika Scholz ,&nbsp;Christian Heimbold","doi":"10.1016/j.ymgmr.2025.101201","DOIUrl":"10.1016/j.ymgmr.2025.101201","url":null,"abstract":"<div><h3>Objectives</h3><div>Many publications describe experiences of healthcare professionals (HCPs) on managing phenylketonuria (PKU), but literature on the perspectives of individuals with PKU is limited. Nevertheless, patient insights and strategies to address challenges of living with PKU can provide guidance to HCPs and the PKU community to further optimise PKU care.</div></div><div><h3>Methods</h3><div>A virtual meeting was held to elucidate the lived experience of patients with PKU and brainstorm best practice recommendations from the patient perspective. The meeting was moderated by a psychologist and attended by seven adults with PKU and one caregiver. Based on the outcomes of this meeting and subsequent online rating rounds, consensus statements (≥75 % agreement) reflecting patient focused considerations were developed using a modified Delphi approach.</div></div><div><h3>Results</h3><div>Consensus was reached for 18 statements on five topics: the PKU diet, experience with HCPs throughout life, impact of PKU on everyday life, connecting with the PKU community, and future aspirations to facilitate life with PKU.</div><div>To minimise the burden of diet, avoidance of hunger and offering new treatment options were identified, together with adequate education and support. Maintaining metabolic control throughout adulthood could be facilitated by easier access to clinics beyond in-person visits and by availability of treatment teams specifically equipped to provide PKU-adult care. To further support adults in reaching target blood Phe concentrations and personal goals, pegvaliase can be offered to those eligible. Finally, exchanging experiences with others from the PKU community through social media and live/virtual meetings may help individuals with PKU and caregivers to improve their knowledge and skills to manage PKU.</div></div><div><h3>Conclusion</h3><div>These consensus statements provide unique insights on how challenges faced by individuals with PKU may be addressed and may provide guidance to HCPs as well as the PKU community and caregivers on ways to improve patient care and support.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101201"},"PeriodicalIF":1.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143534192","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":"A novel pathogenic variant c.44A > G (p. Asp15Gly) in TPM3 causing the phenotype of CMYP4A: A case report","authors":"Shanshan Fan ,&nbsp;Guangpu Su ,&nbsp;Mingfeng Li ,&nbsp;Yunmiao Guo ,&nbsp;Lei Wang ,&nbsp;Jinliang Li","doi":"10.1016/j.ymgmr.2025.101203","DOIUrl":"10.1016/j.ymgmr.2025.101203","url":null,"abstract":"<div><div>Tropomyosin 3 (<em>TPM3</em>) encodes the slow α-tropomyosin isoform (Tpm3.12), an actin-binding protein that plays a critical role in the regulation of muscle contraction. Mutations in <em>TPM3</em> are associated with the characteristic features of congenital myopathy (CM).</div><div>A 15-year-old boy had a history of developmental delay, he had long narrow face with a myopathic facial appearance, mild scoliosis of the spine, grade IV muscle strength in the extremities, low muscle tone, absent bilateral knee tendon reflexes, and negative pathological findings. MRI revealed fat infiltration in the leg muscles and the surrounding muscle spaces. Muscle biopsy indicated muscle fiber type disproportion. A novel heterozygous mutation of unknown significance, c.44A &gt; G(p.Asp15Gly), in <em>TPM3</em> gene was identified. This mutation was confirmed to be de novo and was not present in the proband's parents or sister. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), this variant was classified as pathogenic. PyMOL software analysis indicated that the variant affects the intermolecular interactions within the Tpm3.12. Interestingly, we also found that the patient has been mouth-breathing since infancy, along with a skeletal open bite. This phenotype that has not been previously described.</div><div>Our study expands the mutation spectrum of <em>TPM3</em> and offers valuable insights for the clinical diagnosis and genetic counseling of children with CMYP4A.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101203"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143529746","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":"A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography","authors":"Kirkland A. Wilson ,&nbsp;Yun Zhou ,&nbsp;Gary Cunningham ,&nbsp;Kimberly Chapman ,&nbsp;Marshall Summar ,&nbsp;Debra Regier","doi":"10.1016/j.ymgmr.2025.101202","DOIUrl":"10.1016/j.ymgmr.2025.101202","url":null,"abstract":"<div><h3>Objectives</h3><div>An assessment of amino acid and amine concentrations is important for the diagnosis and management of inherited metabolic disorders (IMDs). Methods exist that measure these biologically important metabolites but are cost-prohibitive and/or time consuming. We therefore sought to develop a novel methodology, applicable to IMDs, that is both high-throughput and low cost.</div></div><div><h3>Methods</h3><div>Previously, we developed a methodology for rapid, repeatable, and cost-efficient separation of approximately 20 amines as a proof of concept and now expand it to amines relevant to IMDs. We describe our separation methodology using reverse phase high performance liquid chromatography with ultraviolet-visible spectrum absorbance paired with pre-column derivatization with <em>o</em>-pthalaldehyde.</div></div><div><h3>Results</h3><div>We show reproducibility via concentration assessments, in triplicate, for each amine. We assess amines in prepared standard solutions and in biologic samples from patients with IMDs. We also detected and assessed the amino group containing compounds glutathione (oxidized and reduced forms) and ammonia. Validation was established using absolute area under the curve (AUC) and via comparison using a single internal standard.</div></div><div><h3>Conclusions</h3><div>We report good separation of 40 primary amino group containing metabolites, in a single, 53 min run. This rapid, low cost, and accurate methodology only requires a small volume of sample and can greatly increase availability and access. Finally, the numerous amines and unique compounds detected in our single run has large utility and can potentially increase clinical efficiency and broaden access to research, both important as the need for analysis of amines grows globally.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101202"},"PeriodicalIF":1.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143511048","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":"Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction","authors":"Natsuko Inagaki ,&nbsp;Yasuyoshi Takei ,&nbsp;Tsuguhisa Hatano ,&nbsp;Yasuyuki Takada ,&nbsp;Yoshinao Yazaki ,&nbsp;Hisanori Kosuge ,&nbsp;Masatake Kobayashi ,&nbsp;Shinji Suzuki ,&nbsp;Tomohiro Umezu ,&nbsp;Masahiko Kuroda ,&nbsp;Kazuhiro Satomi ,&nbsp;Takeharu Hayashi","doi":"10.1016/j.ymgmr.2025.101196","DOIUrl":"10.1016/j.ymgmr.2025.101196","url":null,"abstract":"<div><div>Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in <em>GLA</em>, which encodes α-galactosidase A (GLA). The loss or reduced activity of GLA leads to damage to multiple organs, resulting in the intracellular accumulation of globotriaosylceramide in various organs, including the heart, kidneys, and nervous system. Pathological changes in the heart typically result in concentric left ventricular hypertrophy. Hypertrophic cardiomyopathy (HCM) is an intractable disease characterized by unexplained left ventricular hypertrophy and diastolic dysfunction and is typically characterized by asymmetric left ventricular hypertrophy. We performed a causative gene analysis in patients with a rare subtype of HCM, HCM with mid-ventricular obstruction (HCM-MVO), and identified four patients with different pathogenic variants of <em>GLA</em>, which were clinically confirmed as FD. All four patients with FD and rare HCM-MVO morphology were female, and all cases involved the classical form of the disease. Three cases in whom lymphocyte Lyso-Gb3 was measured showed a marked decrease in Lyso-Gb3 after initiating enzyme replacement therapy (ERT). However, even after ERT, myocardial involvement worsened in the long term, and two patients experienced fatal arrhythmias. Therefore, it is difficult to determine the efficacy of myocardial involvement in FD using a lymphocyte-based Lyso-Gb3 assay system. In addition, none of these female patients had renal dysfunction, indicating a different pattern of organ damage compared with that previously reported in male patients.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"42 ","pages":"Article 101196"},"PeriodicalIF":1.8,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143372440","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}