Orphanet Journal of Rare Diseases最新文献

{"title":"Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.","authors":"Meiying Cai, Yashi Gao, Huili Xue, Xianguo Fu, Hua Cao, Liangpu Xu, Na Lin, Hailong Huang","doi":"10.1186/s13023-025-03970-3","DOIUrl":"10.1186/s13023-025-03970-3","url":null,"abstract":"<p><strong>Background: </strong>Although renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies. We retrospectively analyzed data from 1,019 cases for which chromosomal microarray analysis (CMA) was performed; 58 CMA-negative fetuses were selected for whole-exome sequencing (WES).</p><p><strong>Results: </strong>Pathogenic copy-number variations were detected in 88 (8.6%) cases, comprising 25 aneuploidies, 10 macrodeletions/macroduplications, and 53 microdeletions/microduplications. Among the latter, abnormalities in the 22q11.2 or 17q12 region were the most common, followed by those in the 16p11.2 region. Of the 58 CMA-negative samples, six showed abnormal WES results. The genes with pathogenic variants were KMT2D, PKD1, BBS1, NPHP3, BBS2, and HNF1B. Hyperechogenic kidney was associated with the highest rate of pathogenic variation (19.8%), followed by renal dysplasia (18.8%). In contrast, hydronephrosis and horseshoe kidney were associated with the lowest incidence of pathogenic variants. The 871 cases with successful follow-up (85.5%) included 120 terminations, 2 stillbirths, and 4 perinatal deaths. Of the remaining 745 live births with renal abnormalities, 63 underwent surgery, and 3 presented with developmental delay. Surgery was most commonly performed in newborns with hydronephrosis (26.8%).</p><p><strong>Conclusions: </strong>The prenatal ultrasound-screening of fetal renal abnormalities, whether isolated or non-isolated, should be accompanied by rapid etiological analysis. In particular, we noted a high incidence of pathogenic variants in fetal hyperechogenic kidneys, while hydronephrosis was associated with few pathogenic variants and good prognosis after birth. The etiology of fetal renal abnormalities remains unclear for many patients. In this study, we investigated the underlying causes, clinical phenotypes, and outcomes. We performed whole-exome sequencing on 1,019 specimens from fetuses with ultrasound-verified renal abnormalities. Our single-tertiary-center study expands on the etiology of renal abnormalities and confirms the clinical utility of whole-exome sequencing for prenatal screening.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"425"},"PeriodicalIF":3.5,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12345003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848208","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":"The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.","authors":"Kristofoor E Leeuwenberg, Johanna E Bruijnes, Llse Karnebeek, Fran Smulders, Sandra Altena-Rensen, Caroline M L Gorissen-Brouwers, Sylvia Klinkenberg, Catharina G Faber, Hilde Braakman, Karlien Mul","doi":"10.1186/s13023-025-03920-z","DOIUrl":"10.1186/s13023-025-03920-z","url":null,"abstract":"<p><p>Although myotonic dystrophy type 1 (DM1) is named after its characteristic muscle symptoms, it is in fact a multisystem disorder that can affect many different organs. It is therefore not surprising that this disease can manifest with a myriad of symptoms, depending on the organs involved. The age of onset and severity of symptoms vary widely. Diagnostic delays of more than ten years are common and it's not unusual for an entire family to be diagnosed only after the birth of a child with a severe phenotype. Knowledge of the spectrum of possible symptoms in DM1 can aid clinicians to recognise this disorder, thereby preventing unnecessary diagnostic delay and facilitating early treatment of disease complications. Here, we present an overview of the potential symptoms of DM1 at different ages, with the aim of raising awareness among healthcare professionals about the recognition of this disabling disease.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"427"},"PeriodicalIF":3.5,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848211","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":"6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal^®) in primary distal renal tubular acidosis.","authors":"Aurélia Bertholet-Thomas, Aurélie De Mul, Julie Bernardor, Gwenaëlle Roussey-Kesler, Ludmila Podracka, Robert Novo, François Nobili, Bertrand Knebelmann, Jérôme Harambat, Emilija Golubovic, Olivia Boyer, Massimo Di Maio, Mathilde Cailliez, Véronique Baudouin, Laure Chidler, Véronique Leblanc, Justine Bacchetta","doi":"10.1186/s13023-025-03953-4","DOIUrl":"10.1186/s13023-025-03953-4","url":null,"abstract":"<p><strong>Background: </strong>Distal renal tubular acidosis (dRTA) is a rare disease characterized by hyperchloremic metabolic acidosis affecting growth, bone and kidney health.</p><p><strong>Methods: </strong>The aim of B22CS study was to evaluate long-term safety and efficacy (anthropometric/pubertal, tubular damages/kidney function, bone biomarkers, compliance assessments) of Sibnayal^®, a prolonged-release alkalinizing formulation with twice daily dosing, in children and adults with dRTA. All patients were previously included in the pivotal B21CS study, so were already receiving Sibnayal^® when included in B22CS open-label follow-up study.</p><p><strong>Results: </strong>A total of 30 patients with primary dRTA (mean age:10.6 ± 6.0 years) entered this long-term study (average of 6 years). At inclusion, most patients had adequate metabolic control, normal kidney function and height. Sibnayal^® was well tolerated over the study duration.The most frequent adverse event was hypovitaminosis D (13 patients). Causality to treatment was reported for only 4% of all TEAEs (6 patients) and were mostly gastrointestinal. All adverse events resolved without treatment discontinuation. Sibnayal^® allowed a sustained control of metabolic acidosis as plasma bicarbonate level was 22.0 ± 3.2 mmol/L at baseline versus 22.6 ± 2.5 mmol/L at the End of Follow-up (EoF), p = NS. From baseline to EoF, mean Z-score height significantly increased (-0.6 ± 1.0 to -0.3 ± 1.0, p = 0.03), without significant change in weight and body mass index. Kidney function remained stable from baseline to EoF: estimated glomerular filtration rate = 105 ± 17 and 104 ± 20 mL/min/1.73m², respectively, p = NS. Urinary ratios: Calcium/Creatinine (UCa/UCr), Citrate/Creatinine (UCi/UCr), Calcium/Citrate (UCa/UCi) were not significantly different between baseline and EoF (p = NS). Mean lumbar bone mineral density Z-score significantly increased from baseline (-1.1 ± 1.0) to EoF (-0.8 ± 1.0), p = 0.005, with significant improvement between baseline and EoF in pre- and post-pubertal patients (p = 0.035 and p < 0.001, respectively), whilst it was maintained in pubertal patients (p = NS).</p><p><strong>Conclusion: </strong>Long-term data support the good safety and efficacy profile of Sibnayal^® in the treatment of dRTA with adequate control of metabolic acidosis, stable kidney function and significant positive long-term clinical outcomes.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"431"},"PeriodicalIF":3.5,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848235","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":"Epidemiology, disease burden and costs of Duchenne muscular dystrophy in Germany: an observational, retrospective health claims data analysis.","authors":"Joanna Diesing, Janbernd Kirschner, Astrid Pechmann, Jörg König, Leonie Kunk, Tarcyane Barata Garcia, Carolina Schwedhelm, Carsta Militzer-Horstmann, Ivonne Hänsel, Agnes Kisser","doi":"10.1186/s13023-025-03906-x","DOIUrl":"10.1186/s13023-025-03906-x","url":null,"abstract":"<p><strong>Background: </strong>Duchenne muscular dystrophy (DMD) is a rare genetic disorder that primarily affects males. Beginning in childhood, patients experience ambulatory loss, heart failure and need ventilation. Disease management has improved, however, DMD remains debilitating, and has no cure. The rarity of the disease makes research difficult, and German prevalence data are lacking. Cost and resource utilization estimations are based on small sample sizes or self-reported data, limiting generalizability and adds the potential for recall bias. With a retrospective study on a healthcare claims database, we adapted algorithms to identify DMD patients and categorized them by disease stages 1-4 (early ambulatory, late ambulatory, early non-ambulatory, late non-ambulatory) with increasing disease progression. We analyzed annual prevalence, burden of disease, healthcare resource utilization and direct medical care costs, by time under observation (patient year).</p><p><strong>Results: </strong>From 2016 to 2021, we identified 134 patients for which we could determine a disease stage and determined an extrapolated prevalence of DMD in Germany between 14.85 (95%CI 12.17, 17.95) and 18.91 (95%CI 15.70, 22.61) per 100,000 males under 40 years of age. Most patients we identified met DMD stage 4 group criteria (47.01%), followed by stage 3 (37.31%), stage 2 (33.58%) and only 4.48% in stage 1. The average age increased with progressing disease, from 4.27 years in stage 1, to 11.43, 18.86 and 23.21 in stage groups 2, 3 and 4, respectively. In the stage 2 group, diagnosis codes reflecting mobility support and orthopedic surgical interventions (15.56% of the group) were documented. In the stage 3 group, decubitus prevention was documented, increasing to around half of patients in the stage 4 group. Total direct mean healthcare costs per patient year increased substantially with disease severity group, from €2,180.73 (SD 16,258.90) in stage 1; €13,599.83 (SD 33,756.07) in stage 2; €14,472.08 (SD 27,245.78) in stage 3 and finally €41,888.70 (SD 117,718.13) in stage 4. Especially in stage groups 3 and 4, medical aids accounted for about half of total costs.</p><p><strong>Conclusions: </strong>We present an algorithm on which further research can be based, and provide a current picture of epidemiology, burden of disease and healthcare utilization and direct costs of DMD in Germany.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"429"},"PeriodicalIF":3.5,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848207","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":"Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).","authors":"Robert J Hopkin, Dawn Laney, Sean Kazemi, Angela Walter","doi":"10.1186/s13023-025-03922-x","DOIUrl":"10.1186/s13023-025-03922-x","url":null,"abstract":"<p><p>Fabry disease (FD) is a rare, X-linked, progressive multi-system disorder of glycosphingolipid metabolism that causes cellular and organ damage in multiple body systems. FD has not been studied as extensively in females as in males due to greater heterogeneity of presentation and variability of disease course in females. Furthermore, despite published evidence to the contrary, females are still often referred to as carriers of FD and their symptoms assumed to be mild. Findings from recent studies and patient registries show that over two-thirds of females with FD experience signs and symptoms in different body systems, with over a third experiencing severe clinical manifestations. Symptoms include a wide variety of cardiovascular, neurologic, kidney, gastrointestinal, and psychiatric/psychologic effects, which significantly impair health-related quality of life and shorten life expectancy in affected females. Accurate and timely diagnosis is hindered by overlap of signs and symptoms (which may be non-specific) with other conditions, as well as lack of physician awareness. Females with FD are often compared with their affected male counterparts as opposed to unaffected females in the general population, which may result in less rigorous management for females than may be appropriate were they not being contrasted with males. It is more clinically appropriate to consider onset and severity of symptoms in females with FD in comparison to their unaffected counterparts in the general population. There is, therefore, a need for greater representation of females in clinical studies that are designed and powered to specifically detect endpoints in this group, and to evaluate these endpoints against those seen in females in the general population without FD. Improvements in the understanding of disease phenotypes, biomarkers, presentation, course, and outcomes in pediatric and adult females are needed.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"433"},"PeriodicalIF":3.5,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848209","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":"Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series.","authors":"Daria S Fomina, Marina S Lebedkina, Elena N Bobrikova, Yulia D Yukhnovskaya, Anna A Roppelt, Olga A Mukhina, Ulyana A Markina, Yulia G Alexeeva, Ekaterina A Nikitina, Marcus Maurer, Alexander V Karaulov, Maryana A Lysenko, Thomas Buttgereit","doi":"10.1186/s13023-025-03932-9","DOIUrl":"10.1186/s13023-025-03932-9","url":null,"abstract":"<p><p>Data on hereditary angioedema with normal C1 inhibitor levels are currently limited. To date, only one Italian family with HAE-MYOF has been described, comprising exclusively female members. The angioedema (AE) of head and neck area with the teenage onset, triggered by menses and high fever episodes were identified. It is necessary to search for potential biomarkers in patients with HAE-MYOF. This case series reports two unrelated individuals from different families with symptoms onset of recurrent AE and identified myoferlin gene mutations. Due to limited knowledge about the clinical presentation, pathogenesis, and treatment response in HAE-MYOF, further data collection is essential.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"424"},"PeriodicalIF":3.5,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12344933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835989","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":"A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.","authors":"Ian Keyzor, Ana Maria Martins, Sema Kalkan Uçar, Hiroyuki Yamakawa, Yin-Hsiu Chien, Nur Arslan, Dau-Ming Niu, Leyla Tümer, Laura Baldock, Simon Shohet, Joseph D Giuliano","doi":"10.1186/s13023-025-03707-2","DOIUrl":"10.1186/s13023-025-03707-2","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease (FD) is a rare inherited X-linked lysosomal disorder caused by the deficiency or dysfunction of the enzyme α-galactosidase. This leads to a detrimental accumulation of globotriaosylceramide (Gb3) within multiple cell types. Enzyme replacement therapies (ERTs), including agalsidase alfa and agalsidase beta, can diminish Gb3 levels. Published real-world data on the time, cost and burden associated with the administration of ERTs are limited. These evidence gaps were addressed by generating real-world data quantifying the burden of agalsidase alfa and beta infusions for FD treatment.</p><p><strong>Method: </strong>The study (ClinicalTrials.gov number: NCT04281537) comprised a prospective time-and-motion and a cross-sectional evaluation of self-reported burden and outcomes associated with ERT administration (including work productivity and out-of-pocket costs) from multiple perspectives (healthcare professionals [HCPs], patients, and caregivers). To assess patient/caregiver experience and burden of ERT, the primary objective was to quantify the total time spent by HCPs in the preparation and administration of a single dose of ERT.</p><p><strong>Results: </strong>Overall, 76 patients and 6 caregivers were included. Of the 76 patients, (Brazil [n = 23], Japan [n = 4], Taiwan [n = 30] and Turkey [n = 19]), 41% were female and the mean (standard deviation [SD]) age at diagnosis was 41.1 (17.1) years. Overall, most patients (70%, n = 53) had moderate FD and were treated with agalsidase beta (65%, n = 48); this was the predominant ERT administered in Brazil (100%, n = 23) and Turkey (74%, n = 14); most patients in Japan (75%, n = 3) and Taiwan (67%, n = 20) received agalsidase alfa. The mean (SD) HCP time spent on all ERT activities was 151.9 (62.5) minutes (2.5 [1.0] hours); the mean (SD) time spent on pre- and post-infusion activities was 20.9 (13.4) (0.3 [0.2] hours) and 12.8 (9.6) minutes (0.2 [0.2] hours), respectively. The mean (SD) time spent by patients for all ERT activities was 368.5 (191.5) minutes (6.1 [3.2] hours); 21% (n = 16/76) of patients and 50% (n = 3/6) of carers took time off work for an ERT episode.</p><p><strong>Conclusions: </strong>The multi-region findings provide a more complete picture of the burden associated with ERT administration for FD treatment on patients, caregivers, and HCPs. Results may support further cost-effectiveness modelling for novel treatment approaches and inform treatment decisions and patient management.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"419"},"PeriodicalIF":3.5,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822173","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":"Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome.","authors":"Xi Yang, Rong Hu, Weiwei Huang, Jian Lu","doi":"10.1186/s13023-025-03969-w","DOIUrl":"10.1186/s13023-025-03969-w","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"421"},"PeriodicalIF":3.5,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822155","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":"Neuropsychiatric symptoms and clinical characteristics of survivors with colloid cysts.","authors":"Amanda Onoichenco, Tanveen Dhallu, Sarah Kabariti, Qiushuang Li, David Harter, Cinthi Pillai, Claire Snyman, Recai Yucel, Deborah Gustafson","doi":"10.1186/s13023-025-03905-y","DOIUrl":"10.1186/s13023-025-03905-y","url":null,"abstract":"<p><strong>Background: </strong>Colloid cysts are rare, benign brain tumors often located in the third ventricle or near the foramen of Monro. They can evoke neuropsychiatric and physical symptoms including migraine, visual changes, memory loss, and sudden loss of consciousness. They are associated with high mortality due to late moderate-to-severe symptom presentation and limited access to neurological and/or neurosurgical expertise. The Colloid Cyst Symptoms Survey (CCSS) was designed and administered anonymously using REDCap and posted to the Colloid Cyst Survivors Facebook group for 6 months in 2022. The CCSS queried about sociodemographic factors, personal history of a colloid cyst, age of cyst diagnosis, neuropsychiatric and physical symptoms/signs before and after surgery, procedure type if their cyst was removed, and follow-up with neurological, neuropsychiatric or psychological services. Psychiatric symptoms within the last two weeks were assessed using the DSM-5 Self-Rated Level 1 Cross-Cutting Symptom Measure-Adult assessing 13 psychiatric domains (American Psychiatric Association).</p><p><strong>Results: </strong>Participants included 225 adults who were U.S citizens with a personal history of a colloid cyst. The majority were female (71.3%) and White (94.0%). Age of diagnosis occurred between 12 and 75 years old, median age 42 years. On average, patients reported 2 pre-clinical symptoms leading to diagnosis, most commonly migraine (48.9%) and aura (30.7%). Hydrocephalus was reported by 56.9%. In patients who underwent surgical removal of their colloid cyst, craniotomy (53.9%) was more common than endoscopic removal (42.6%). Common conditions and physical complications persisting after surgery included changes in energy level (N = 68), memory problems (N = 71), and anxiety (N = 46); higher prevalence of post-surgical complications were observed in the hydrocephalus and craniotomy groups. The DSM-5 screener identified areas of concern including memory, anxiety, somatic symptoms, sleep difficulties, anger, depressive symptoms, suicidality, and substance use. Despite this only ~ 1/10 patients received follow-up with psychiatrists or psychologists.</p><p><strong>Conclusions: </strong>To our knowledge this is the largest cross-sectional study querying clinical characteristics among colloid cyst survivors. Persisting neuropsychiatric symptoms were reported to be high. People experiencing brain surgery, even for benign tumors, need to be assessed for neuropsychiatric morbidity.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"420"},"PeriodicalIF":3.5,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822153","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":"Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.","authors":"Aamir Ijaz, Seyyedha Abbas, Maria Shabbir, Yasmin Badshah, Fizzah Abid, Tayyaba Afsar, Suhail Razak","doi":"10.1186/s13023-025-03979-8","DOIUrl":"10.1186/s13023-025-03979-8","url":null,"abstract":"<p><p>Inherited metabolic disorders (IMDs) are classified under rare genetic diseases almost always presenting in newborn and infants. IMDs are classified according to the clinical presentation, diagnosis and prognosis. Several factors are involved in the IMDs pathogenesis. Moreover, almost all IMDs follows the autosomal recessive inheritance pattern. At the basis of these diseases lie genetic mutations that affect metabolic pathways. The diagnosis is made by clinical manifestations in addition to biochemical tests and genetic analysis. Due to the different metabolic pathways involved, the multi-omics approaches can significantly increase diagnosis sensitivity. Early identification and diagnosis of IMD are critical to avoid death or neurological defects. In developing countries, lack of timely diagnosis exists mostly due to socioeconomic factors and unawareness. Research needs to be conducted to find better options for the treatment of IMDs. Understanding the molecular mechanisms of IMDs would be helpful in understanding the challenges that exist for the treatment of IMDs. This review aims to provide understanding regarding the pathogenesis of IMDs. Also, to highlight the challenges that exist in the effective treatment and diagnosis of IMDs.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"422"},"PeriodicalIF":3.5,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822152","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}