Molecular genetics and metabolism最新文献

{"title":"The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review","authors":"Uma Ramaswami ,&nbsp;Michael L. West ,&nbsp;Karen Tylee ,&nbsp;Genaro Castillon ,&nbsp;Andreas Braun ,&nbsp;Megan Ren ,&nbsp;Indraraj Umesh Doobaree ,&nbsp;Heena Howitt ,&nbsp;Albina Nowak","doi":"10.1016/j.ymgme.2025.109110","DOIUrl":"10.1016/j.ymgme.2025.109110","url":null,"abstract":"<div><h3>Background</h3><div>Fabry disease (FD) is a rare, X-linked lysosomal storage disorder in which a lack of alpha-galactosidase (α-Gal A) enzyme activity leads to intracellular accumulation of deacylated globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), and their analogs. Lyso-Gb3, present in the blood and urine of affected patients, has been extensively investigated as a biomarker for FD. This systematic literature review (SLR) aimed to comprehensively assess the use of lyso-Gb3 as a biomarker for screening, monitoring, and diagnosis of FD in both real-world and clinical trial settings.</div></div><div><h3>Methods</h3><div>An SLR was performed to identify the following outcomes in adult and pediatric patients with FD: lyso-Gb3 testing patterns, lyso-Gb3 levels in subpopulations, performance and accuracy of lyso-Gb3 testing for diagnosis, and lyso-Gb3 testing for monitoring of disease progression or treatment efficacy/effectiveness. Interventional and non-interventional studies published between 1 January 2017 and 3 November 2022 were included. Searches were primarily conducted in MEDLINE and Embase; pragmatic or hand searches were also performed. The methodological quality of included full-text studies was assessed using validated appraisal tools. Extracted data were synthesized qualitatively.</div></div><div><h3>Results</h3><div>The SLR included 83 eligible publications, comprising 71 observational studies and 12 clinical trials. Differences in lyso-Gb3 levels were identified across subpopulations, with several studies reporting higher levels in males versus females. Lyso-Gb3 demonstrated good diagnostic performance in newborns and high-risk patients when used in combination with other markers (α-Gal A activity or <em>GLA</em> variants) but failed to diagnose females with late-onset FD. Reliability and stability across different methods used to measure lyso-Gb3 was high, with a coefficient of variation &lt;10 % for inter- and intra-assay measurements. Several studies identified moderate to strong correlation between plasma lyso-Gb3 levels and cardiac measures, but association with renal measures needs further investigation.</div></div><div><h3>Conclusions</h3><div>Lyso-Gb3 testing demonstrated accuracy in screening, diagnosis, and monitoring of FD in certain subpopulations, particularly males, but considering its lower sensitivity in late-onset female patients, it should be used in conjunction with other tools. Given the reliability of the test, it can be considered a feasible method for monitoring disease progression in FD in individual patients. Several gaps in the literature were identified, warranting further investigation.</div><div><strong>Registration:</strong> PROSPERO (CRD42022375141).</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 2","pages":"Article 109110"},"PeriodicalIF":3.7,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143904591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Substrate reduction using a glucosamine analogue in Drosophila melanogaster and mouse models of Sanfilippo syndrome","authors":"Sher Li Tan ,&nbsp;Daniel Neumann ,&nbsp;Paul J. Trim ,&nbsp;Laura J. Hewson ,&nbsp;Nooramirah Farhana Mustaffar ,&nbsp;Qi Qi He ,&nbsp;Norbert Wimmer ,&nbsp;Marten F. Snel ,&nbsp;Vito Ferro ,&nbsp;Louise V. O'Keefe ,&nbsp;Kim M. Hemsley ,&nbsp;Adeline A. Lau","doi":"10.1016/j.ymgme.2025.109112","DOIUrl":"10.1016/j.ymgme.2025.109112","url":null,"abstract":"<div><div>Mucopolysaccharidosis (MPS) types III A and C are inherited neurodegenerative disorders resulting from the lack of a specific enzyme involved in heparan sulfate (HS) catabolism, leading to the accumulation of partially-degraded HS fragments. At present, there are no approved treatments and death is commonly in the second decade of life. Several therapies have undergone pre-clinical evaluation for these conditions, including substrate reduction therapy, with the most studied compound of this class being the isoflavone genistein. However, findings from a Phase III clinical trial demonstrated that high dose oral genistein did not significantly improve neurodevelopmental outcomes in patients with MPS III (Sanfilippo syndrome). Here, we have tested an <em>N</em>-acetylglucosamine analogue, 4-deoxy-<em>N</em>-acetylglucosamine peracetate, as a novel substrate reduction therapy for HS-storing lysosomal storage disorders such as MPS III. Treatment with this compound significantly reduced HS levels in cultured MPS IIIA patient and mouse fibroblasts in a time- and dose-dependent manner. MPS IIIC <em>Drosophila</em> fed 4-deoxy-<em>N</em>-acetylglucosamine peracetate contained significantly less HS relative to those raised on control diets. Likewise, improvements in HS load within the MPS IIIA mouse brain suggests that the compound crossed the blood-brain barrier after oral administration. Although long-term studies are needed, these findings indicate that 4-deoxy-GlcNAc peracetate may be beneficial in slowing the accumulation of HS and may represent a novel substrate reduction therapeutic for MPS III and potentially other HS-storing disorders.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 2","pages":"Article 109112"},"PeriodicalIF":3.7,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143873434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening for spinal muscular atrophy: The potential of digital polymerase chain reaction technique","authors":"Jun Kido ,&nbsp;Ken Haruno ,&nbsp;Keishin Sugawara ,&nbsp;Kotaro Anan ,&nbsp;Yusuke Hattori ,&nbsp;Yusuke Noda ,&nbsp;Takaaki Sawada ,&nbsp;Kimitoshi Nakamura","doi":"10.1016/j.ymgme.2025.109114","DOIUrl":"10.1016/j.ymgme.2025.109114","url":null,"abstract":"<div><div>Spinal muscular atrophy (SMA) is a degenerative neuromuscular disorder caused by a homozygous <em>SMN1</em> loss-of-function variant. Early detection of SMA at the pre-symptomatic stage is essential for effective therapy. Consequently, Japan initiated newborn screening (NBS) for SMA in 2021 in the Kumamoto Prefecture, following global recommendations and implementations.</div><div>The current NBS protocol involves a two-step process: first, quantitative real-time polymerase chain reaction (qPCR) for <em>SMN1</em>, followed by <em>SMN1</em> and <em>SMN2</em> copy number analysis using multiplex ligation-dependent probe amplification (MLPA). However, this approach is time-intensive, and qPCR alone cannot distinguish a single copy of <em>SMN1</em> exon 7. The current NBS protocol is designed to detect approximately 96 % of SMA cases, specifically those with homozygous <em>SMN1</em> exon 7 deletions.</div><div>This study developed a digital PCR system for simultaneous analysis of <em>SMN1</em> and <em>SMN2</em> copy numbers to reduce the diagnostic time and improve diagnostic accuracy. Digital PCR was tested on dried blood spot (DBS) samples from 6 SMA patients (P-1 - P-6) and 386 healthy newborns. Additionally, the <em>SMN1</em> and <em>SMN2</em> copy numbers of the 6 patients were evaluated using MLPA.</div><div>The results demonstrate that digital PCR enables simultaneous analysis of <em>SMN1</em> and <em>SMN2</em> copy numbers, with the outcomes for all six patients matching those obtained through MLPA. Moreover, digital PCR was more cost-effective than qPCR.</div><div>Thus, digital PCR offers a practical and efficient alternative for SMA screening in NBS, enabling simultaneous analysis of <em>SMN1</em> and <em>SMN2</em> copy numbers while also improving the diagnostic speed and accuracy.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 2","pages":"Article 109114"},"PeriodicalIF":3.7,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis","authors":"Hiroyuki Iijima ,&nbsp;Atsuko Imai-Okazaki ,&nbsp;Yoshihito Kishita ,&nbsp;Ayumu Sugiura ,&nbsp;Masaru Shimura ,&nbsp;Kei Murayama ,&nbsp;Yasushi Okazaki ,&nbsp;Akira Ohtake","doi":"10.1016/j.ymgme.2025.109113","DOIUrl":"10.1016/j.ymgme.2025.109113","url":null,"abstract":"<div><div>BOLA3 is one of the proteins involved in the assembly and transport of [4Fe-4S] clusters, which are incorporated into mitochondrial respiratory chain complexes I and II, aconitase, and lipoic acid synthetase. Pathogenic variants in the <em>BOLA3</em> gene cause a rare condition known as multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, characterized by life-threatening lactic acidosis, nonketotic hyperglycinemia, and hypertrophic cardiomyopathy.</div><div>The aim of this study was to elucidate the biochemical characteristics of patients with <em>BOLA3</em> variants and to clarify the role of BOLA3 protein in humans. The characteristics, clinical course, and biochemical data of eight Japanese patients with <em>BOLA3</em> pathogenic variants were collected. In addition, metabolomic analyses were performed using capillary electrophoresis time-of-flight mass spectrometry, blue native polyacrylamide gel electrophoresis (BN-PAGE)/Western blot analysis of mitochondrial respiratory chain complexes, and in-gel enzyme staining of mitochondrial respiratory chain complexes of fibroblasts from all eight patients. Metabolomic data were compared between the eight patients with <em>BOLA3</em> variants and three control samples using Welch's <em>t</em>-test. In the metabolomic analysis, levels of lactic acid, pyruvic acid, alanine, tricarboxylic acid (TCA) cycle intermediates (such as α-ketoglutaric acid and succinic acid), branched-chain amino acids, and metabolites of lysine and tryptophan were significantly elevated in the <em>BOLA3</em> group. Data collected during the patients' lives showed increased lactic acid and glycine levels. In BN-PAGE/Western blot analysis and in-gel enzyme staining, bands for complexes I and II were barely detectable in all eight cases. These results indicate that <em>BOLA3</em> variants decrease the activity of lipoic acid-dependent proteins (pyruvate dehydrogenase complex, α-ketoglutarate dehydrogenase, 2-oxoadipate dehydrogenase, branched-chain ketoacid dehydrogenase, and the glycine cleavage system), as well as mitochondrial respiratory chain complexes I and II, but do not affect aconitase. Thus, it is believed that BOLA3 is involved in transporting [4Fe-4S] clusters to respiratory chain complexes I and II and lipoic acid synthetase, but does not interfere with aconitase. These findings suggest that while lipoic acid supplementation or vitamin cocktails may provide benefits, the impaired [4Fe-4S] cluster pathway itself should be targeted for treatment to improve the extensive metabolic abnormalities caused by BOLA3 deficiency.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 2","pages":"Article 109113"},"PeriodicalIF":3.7,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolic decompensation events among patients with propionic acidemia across the US: A large electronic medical record data study","authors":"Vanja Sikirica ,&nbsp;Geetanjoli Banerjee ,&nbsp;Sue Perera ,&nbsp;Ryan B. Simpson ,&nbsp;John Shen ,&nbsp;Thomas Zhen ,&nbsp;Ann Madsen ,&nbsp;Paige Sheridan","doi":"10.1016/j.ymgme.2025.109111","DOIUrl":"10.1016/j.ymgme.2025.109111","url":null,"abstract":"<div><div>Propionic acidemia (PA) is a rare, inherited, metabolic disorder affecting amino acid metabolism. PA is characterized by periods of catabolism, which can lead to metabolic decompensation events (MDEs), commonly defined by metabolic acidosis and/or hyperammonemia. This retrospective study used TriNetX (1/1/2015–4/24/2022), a large longitudinal, electronic medical record database, to describe the clinical profile and burden of MDEs for patients with PA in the United States (US). Patients with known age were indexed on their first observed PA diagnosis on or after January 2015. Rates of MDEs, MDE-related clinical parameters, and healthcare resource utilization (HCRU) were assessed during the follow-up period (from index to death, end of data, or a 183-day gap in encounters). Among 269 patients with PA (55.0% adults, 51.3% male), 79 patients (29.4%) experienced ≥1 MDE in an inpatient (IP) or emergency room (ER) setting, and 128 patients (47.6%) experienced ≥1 MDE in any setting including the ambulatory setting. The rate of IP/ER MDEs was 0.53 per patient-year (PPY; 95% confidence interval: 0.36, 0.78); visually, rates followed a U-shaped distribution being higher in patients aged 0 to &lt;2 years (0.58 PPY) and adults ≥18 years (0.72 PPY) compared to patients aged 2 to 18 years (0.22–0.34 PPY). Adults' MDEs commonly involved metabolic acidosis (86.7%) while pediatrics' MDEs commonly involved hyperammonemia (43.4–55.6%). Infection was the most common MDE trigger (63.3%); vomiting (45.6%) and seizure activity (41.8%) the most common MDE symptoms. A higher proportion of patients with MDEs died (21.5%) than those without MDEs (14.7%) during the entire study period; patients with MDEs also had a higher proportion of comorbidities and treatment usage than those without MDEs. This study provides the largest assessment of patients with PA across the US and documents the substantial morbidity with a focus on MDE burden, as well as mortality, highlighting clear unmet need.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 2","pages":"Article 109111"},"PeriodicalIF":3.7,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients” [Molecular Genetics and Metabolism 2025 Mar;144(3):109025].","authors":"Josephine Kolstad ,&nbsp;Christopher Zoppo ,&nbsp;Jean M. Johnston ,&nbsp;Precilla D'Souza ,&nbsp;Anna Luisa Kühn ,&nbsp;Zeynep Vardar ,&nbsp;Ahmet Peker ,&nbsp;Asma Hader ,&nbsp;Hakki Celik ,&nbsp;Connor J. Lewis ,&nbsp;Clifford Lindsay ,&nbsp;Zubir S. Rentiya ,&nbsp;Catherine Lebel ,&nbsp;Srinivasan Vedantham ,&nbsp;Behroze Vachha ,&nbsp;Heather L. Gray-Edwards ,&nbsp;Maria T. Acosta ,&nbsp;Cynthia J. Tifft ,&nbsp;Mohammed Salman Shazeeb","doi":"10.1016/j.ymgme.2025.109109","DOIUrl":"10.1016/j.ymgme.2025.109109","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 1","pages":"Article 109109"},"PeriodicalIF":3.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143873765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adults","authors":"Eline C.B. Eskes ,&nbsp;Sandra A.M. van den Berg-Faaij ,&nbsp;Nienke P.M. Wassenaar ,&nbsp;Carla E.M. Hollak ,&nbsp;Aart J. Nederveen ,&nbsp;Barbara Sjouke","doi":"10.1016/j.ymgme.2025.109107","DOIUrl":"10.1016/j.ymgme.2025.109107","url":null,"abstract":"<div><div>Hepatic involvement is one of the main visceral manifestations of Acid Sphingomyelinase Deficiency (ASMD). It can lead to liver fibrosis and liver failure in a subset of patients. Better understanding of the boundary between reversible and irreversible liver involvement is important to initiate enzyme replacement therapy at the right moment. Currently, liver enzymes and liver stiffness measured with transient elastography (TE) are used to assess liver involvement of ASMD. The aim of this study was to investigate whether magnetic resonance (MR) techniques such as MR spectroscopy (MRS) and MR elastography (MRE) are useful methods to measure liver involvement of ASMD and whether they are more useful than TE.</div><div>Thirteen therapy-naïve adult ASMD patients with the chronic visceral subtype and eleven age-, sex- and body mass index-matched healthy controls were recruited. All participants underwent MRS and MRE scans and had blood drawn for the measurement of liver enzymes. For patients data of TE and biochemical plasma markers for ASMD were collected.</div><div>Median fat fraction measured with MRS and median liver stiffness measured with MRE did not differ significantly between ASMD patients and healthy controls (respectively median PDFF 1.0 %, range 0.2–24.2 % for patients and median PDFF 0.7 %, range 0.2–8.4 % for healthy controls, <em>p</em> = 0.49 and median liver stiffness 1.2 m/s, range 0.9–1.4 m/s for patients and median liver stiffness 1.3 m/s, range 1.1–1.4 m/s for healthy controls, <em>p</em> = 0.86). A significant correlation was observed between liver stiffness measured with MRE and liver stiffness measured with TE (<em>R</em> = 0.74, <em>p</em> = 0.014). The MRS spectra showed no specific sphingomyelin peaks. At this moment, TE seems the best method to monitor liver stiffness for adult patients with chronic visceral ASMD.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 2","pages":"Article 109107"},"PeriodicalIF":3.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases","authors":"Simon Moser ,&nbsp;Paul Harmatz ,&nbsp;William Rhoads ,&nbsp;Richard Rowe ,&nbsp;Florian B. Lagler","doi":"10.1016/j.ymgme.2025.109108","DOIUrl":"10.1016/j.ymgme.2025.109108","url":null,"abstract":"<div><h3>Background</h3><div>Mucopolysaccharidosis (MPS) patients frequently require general anesthesia and have a high risk of perioperative complications. Strong recommendations and controlled studies are missing so far.</div></div><div><h3>Methods</h3><div>We conducted a mono-center chart review of 660 anesthesia procedures, with comparison to a published cohort. Reported are quantitative analysis of demographics, MPS types, anesthesia methods, kinds of surgical procedures, rates and types of complications (e.g. respiratory, neurologic or cardiologic complications). Included were all MPS cases that had general anesthesia at the UCSF Benioff Children's Hospital Oakland between 2010 and 2022. We compared our results to another well-known report of 67 patients that underwent 269 anesthesia procedures (Dohrmann et al.) comprising 67 patients that underwent 269 anesthesia procedures.</div></div><div><h3>Results</h3><div>In this study, we analyzed 660 anesthetic procedures on 83 MPS patients. The most frequently used airway type was the supraglottic airway (77 %), followed by intubation (15 %) and mask airway (8 %). Complications occurred in only 7 cases (1.06 %). These cases required 3 or more intubation attempts. Other publications generally report much higher rates. Dohrmann et al. 2020 reported a 25.6 % complication rate, with 55 % airway management problems and 35 % respiratory adverse events as the most common as well as a case of hypoxic cardiac arrest resulting in death as the most serious complications (Dohrmann et al., 2020).</div></div><div><h3>Discussion and conclusion</h3><div>This is a large retrospective study on anesthesia for MPS patients. This report provides important hypotheses on how the safety of anesthesia in MPS could be improved. Allocation of all MPS cases to one anesthetist, proficient use of fiberoptic intubation, ensure patients maintain spontaneous breathing during airway device placement, additional safety standards and backup plans may reduce the complication rate and thus have an important impact on the outcome.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 2","pages":"Article 109108"},"PeriodicalIF":3.7,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction” [Molecular Genetics and Metabolism 144 (2025); 109049]","authors":"Kinsley Belle ,&nbsp;Alexander Kreymerman ,&nbsp;Jill L. Young ,&nbsp;Nirmal Vadgama ,&nbsp;Marco H. Ji ,&nbsp;Sandeep Randhawa ,&nbsp;Juan Caicedo ,&nbsp;Megan Wong ,&nbsp;Stephanie P. Muscat ,&nbsp;Casey A. Gifford ,&nbsp;Richard T. Lee ,&nbsp;Jamal Nasir ,&nbsp;Gregory M. Enns ,&nbsp;Ioannis Karakikes ,&nbsp;Andrew M. Schaefer ,&nbsp;Robert W. Taylor ,&nbsp;Mark Mercola ,&nbsp;Dwight Koeberl ,&nbsp;Edward H. Wood","doi":"10.1016/j.ymgme.2025.109100","DOIUrl":"10.1016/j.ymgme.2025.109100","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 1","pages":"Article 109100"},"PeriodicalIF":3.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143873720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the editor: SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient","authors":"Ileana Trujillo ,&nbsp;Maria E. Aguirre-Flores ,&nbsp;Patrick Sarkis ,&nbsp;Mayowa A. Osundiji","doi":"10.1016/j.ymgme.2025.109106","DOIUrl":"10.1016/j.ymgme.2025.109106","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"145 1","pages":"Article 109106"},"PeriodicalIF":3.7,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143825542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}