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A patent has been issued for methods to treat mucopolysaccharidosis type II or deficiency in iduronate-2-sulfatase using a recombinant adeno-associated virus (AAV) vector encoding iduronate-2-sulfatase. The patent discusses the challenges in addressing neurological manifestations of lysosomal storage diseases and the potential of gene therapy using AAV vectors to treat these conditions. The University of Minnesota is the assignee for this patent, which aims to deliver therapeutic gene products to the central nervous system to prevent, inhibit, or treat symptoms associated with these diseases. [Extracted from the article]

A recent study from the Department of Otolaryngology in Lodz, Poland, highlights the importance of early diagnosis and treatment for patients with mucopolysaccharidoses (MPS), a rare lysosomal disease. The research emphasizes the role of otolaryngologists in recognizing common symptoms of MPS, such as otitis media, craniofacial dysmorphia, and hearing loss, to facilitate timely intervention. The study reviews available treatments for MPS, including hematopoietic stem cell transplantation and enzyme replacement therapy, while also exploring the potential of gene therapy as a promising approach. Researchers stress the need for increased awareness among healthcare professionals to improve outcomes for individuals with MPS. [Extracted from the article]

A patent application titled "Targeted Delivery Of Therapeutic Enzymes" was published online by inventors from Russia. The application focuses on using therapeutic enzymes to treat lysosomal storage diseases, specifically mucopolysaccharidoses, by coupling the enzymes with a transport element to facilitate delivery through the blood-brain barrier. The compound described in the patent aims to address enzyme deficiencies in these diseases, which lead to the accumulation of carbohydrates in cells and tissues, causing various health complications. The patent outlines specific amino acid sequences and methods for treating lysosomal storage diseases with neurological components. [Extracted from the article]

A recent report from the Ann and Robert H. Lurie Children's Hospital of Chicago discusses the findings of newborn screening for mucopolysaccharidosis type II (MPS II) in over half a million infants. The study identified eight cases of MPS II, with a higher prevalence of attenuated cases than previously recognized. The research suggests that MPS II may be more common than initially thought, highlighting the importance of newborn screening for early detection and intervention. [Extracted from the article]

A recent systematic literature review conducted by researchers at Takeda Development Center Americas Inc. focused on the global status of newborn screening for Mucopolysaccharidosis II (Hunter syndrome). The study found that until recently, only Taiwan and two US states (Illinois and Missouri) formally screened newborns for MPS II, with pilot programs in other regions. The research highlighted the importance of newborn screening for early detection and management of this rare genetic disorder, emphasizing the need for further studies on the perspectives of families affected by MPS II. [Extracted from the article]

A recent study conducted in Neuilly-sur-Seine, France, focused on mucopolysaccharidosis type IIIA, a lysosomal storage disorder affecting the central nervous system. The research introduced a novel tandem mass spectrometry method to assess heparan-N-sulphatase activity in pediatric cerebrospinal fluid, revealing significantly reduced levels in individuals with the disorder. The study suggests that this new method could be a valuable tool for evaluating the efficacy of future therapeutic interventions targeting sulphatase activity restoration in the brain. [Extracted from the article]

Researchers from the Department of Medicine published a case study on a 10-year-old female with Scheie syndrome, a mild variant of mucopolysaccharidosis type I (MPS I), who was diagnosed with a rare intracranial tumor. The study highlighted the importance of considering brain tumors in children with mucopolysaccharidoses presenting signs of increased intracranial pressure. Prompt diagnosis and management are crucial to prevent severe neurological consequences. This research sheds light on the complex nature of mucopolysaccharidoses and the challenges in managing these disorders, especially in children with intellectual disabilities. [Extracted from the article]

A recent study conducted at MacKay Memorial Hospital in Taipei, Taiwan, has been published on the topic of mucopolysaccharidoses (MPS). MPS is a group of rare lysosomal storage disorders caused by a lack of specific lysosomal enzymes, resulting in the accumulation of glycosaminoglycans in various tissues and organs. The study focuses on the involvement of pediatric otolaryngologists in managing MPS, particularly in relation to ear, nose, and throat disorders that are common symptoms in MPS patients. The research also explores potential treatment options and emphasizes the importance of a smooth transition from pediatric to adult care for MPS patients. [Extracted from the article]

A recent study conducted at the University of North Carolina Chapel Hill examined the effects of early treatment with intravenous idursulfase and intrathecal idursulfase on cognitive function in siblings with Mucopolysaccharidosis II (MPS II). MPS II is a rare, X-linked, heterogeneous lysosomal storage disease that often leads to cognitive impairment. The study found that initiating intrathecal enzyme replacement therapy at an early age may help stabilize or slow cognitive decline in some patients with neuronopathic MPS II. These findings suggest the potential benefits of early intervention for individuals with this condition. [Extracted from the article]

A recent study conducted by researchers at the Shanghai Health Development Research Center in China examined the medical service utilization, economic burden, and quality of life of patients with mucopolysaccharidosis (MPS). The study found that MPS patients in China often face delayed diagnoses, limited treatment options, and high healthcare costs, which significantly impact their quality of life. The research revealed that the average age at first visit to a doctor for MPS symptoms was 3.65 years, with a mean diagnostic delay of 9.42 months. Only 32.78% of patients had received specific treatments, and their quality of life scores were significantly lower than the Chinese norms. The study concludes that there is an urgent need to improve early detection and diagnosis, increase access to specialized treatment, and reduce the economic burden for MPS patients in China. [Extracted from the article]

A recent study explored a new method of administering enzyme replacement therapy for mucopolysaccharidosis type II, a hereditary lysosomal storage disease. The study focused on the use of a nebulizer in combination with intravenous treatment to improve delivery of the enzyme idursulfase to the lungs. While the combination treatment increased enzyme activity in the liver, it did not lead to sustained increase in enzyme activity in the lungs. However, it did show persistent modifications in the glycosaminoglycan degradation pathway, suggesting potential additional benefits to intravenous administration alone. This study has not yet undergone peer review. [Extracted from the article]

A recent study conducted by the University of Gdansk in Poland has identified a new disease called mucopolysaccharidosis-plus syndrome (MPSPS). This syndrome presents symptoms similar to mucopolysaccharidosis (MPS), but also includes additional features such as congenital heart defects and kidney and hematopoietic system disorders. MPSPS is a rare autosomal recessive disease caused by a specific mutation in the VPS33A gene. The study explores the pathomechanisms and symptoms of MPSPS and discusses whether it should be classified as a type of MPS or a separate disease. [Extracted from the article]

A recent study conducted by researchers from the University of Gdansk in Poland explores the classification of mucopolysaccharidosis type IIIE (MPS IIIE) as a human disease or a diagnostic pitfall. MPS is a group of 12 metabolic disorders characterized by the accumulation of glycosaminoglycans (GAGs) within lysosomes due to enzyme defects. The researchers argue that pathogenic variants in the ARSG gene, which are associated with MPS IIIE in animals, also occur in humans and may be linked to a different disorder called Usher syndrome type IV. The study highlights the challenges in diagnosing and classifying inherited metabolic diseases. [Extracted from the article]

A recent report from the University of North Carolina discusses the potential use of fluoxetine, an antidepressant, as a treatment for mucopolysaccharidosis IIIA (MPS IIIA), a lysosomal storage disorder. The study involved a single pediatric patient who was treated with off-label fluoxetine for 12 months. The treatment was well-tolerated, with the patient experiencing improved sleep and no serious adverse effects. These findings suggest that further research is warranted to explore the potential of fluoxetine as a therapy for MPS IIIA. [Extracted from the article]

The article focuses on a study conducted at the Centro Hospitalar Universitario de Sao Joao that explores novel fundoscopic findings in patients with Mucopolysaccharidosis Type VI (MPS VI). It reveals new ocular manifestations, particularly scleral deposits of glycosaminoglycans, using advanced imaging techniques like fundus photography and enhanced depth imaging optical coherence tomography (EDI-OCT).

The article focuses on a patent application for a pharmaceutical composition aimed at treating mucopolysaccharidosis type I (MPS I). Topics include the development of a fusion protein combining anti-human transferrin receptor antibody with human α-L-iduronidase, its method of administration, and its potential to cross the blood-brain barrier to treat central nervous system disorders associated with MPS I.

This article discusses a case study on mucopolysaccharidosis type I, also known as Hurler syndrome, a rare lysosomal storage disorder. The study focuses on a 1-year-old male child who presented with symptoms including increasing head size, bilateral large inguinoscrotal swellings, and developmental delays. The child was diagnosed with Hurler syndrome through genetic testing and enzyme analysis. The article highlights the challenges of surgical management in patients with mucopolysaccharidosis type I and emphasizes the importance of timely medical and surgical treatment for improved prognosis. [Extracted from the article]

A recent study conducted by Harvard Medical School provides new data on mucopolysaccharidoses, specifically focusing on mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome. MPS II is a rare genetic disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. The study found that enzyme replacement therapy (ERT) with intravenous idursulfase showed improved short- and long-term clinical outcomes for patients with MPS II, particularly if treatment is initiated early in life. The research provides valuable insights into the efficacy and safety of ERT for different populations of patients with MPS II, informing the overall management of the disease. [Extracted from the article]

The article reports on findings from the University of North Carolina Chapel Hill regarding mucopolysaccharidoses (MPS). Topics include the challenges of developing therapeutics for ultra-rare MPS disorders due to their clinical heterogeneity and the risk of irreversible brain damage in affected children, the FDA's guidance on using biomarkers for accelerated approval in rare diseases, and the discussions from a 2024 public workshop on utilizing cerebrospinal fluid heparan as a biomarker.

Researchers from Pontificia University Javeriana in Bogota, Colombia have identified potential pharmacological chaperones (PCs) for the treatment of Mucopolysaccharidosis type IIIB (MPS IIIB), a rare inherited disease. MPS IIIB is caused by mutations in the gene encoding the lysosomal enzyme N-acetyl-alpha-glucosaminidase (NAGLU), resulting in reduced enzyme activity. The researchers used a drug repurposing approach and identified atovaquone and piperaquine as potential PCs. These PCs were found to bind to NAGLU and restore enzymatic activity in MPS IIIB fibroblasts. This study provides new insights into potential therapeutic alternatives for MPS IIIB and other protein deficiency diseases. [Extracted from the article]

A recent study conducted at Farwaniya Hospital in Kuwait aimed to screen newborns for mucopolysaccharidosis type I (MPS I), a lysosomal storage disorder. The study screened 618 Kuwaiti newborns over a 12-month period and found that 20 had deficient enzyme activity associated with MPS I. Additionally, one female infant with MPS I was diagnosed outside of the study. The researchers concluded that screening newborns in all maternity hospitals in Kuwait is necessary to accurately determine the incidence of MPS I and support the inclusion of MPS I in the national newborn screening program for early treatment initiation. [Extracted from the article]

This article provides information about a newly launched clinical trial, NCT06488924, conducted by JCR Pharmaceuticals Co., Ltd. The trial aims to evaluate the safety and explore the efficacy of a study drug, JR-446, in the treatment of patients with Mucopolysaccharidosis Type IIIB (MPS IIIB). The trial is an open-label Phase I/II study and will assess the tolerability of JR-446 and measure changes in heparan sulfate levels in cerebrospinal fluid (CSF). The study is currently not recruiting participants and is expected to be completed by September 30, 2029. [Extracted from the article]

A recent study conducted in Karnataka, India, examined the oral health of children diagnosed with mucopolysaccharidosis (MPS), a group of lysosomal storage disorders. The study found that children with MPS had a higher incidence of dental caries, more acidic saliva, and a higher microbial load compared to healthy children. These findings highlight the importance of regular dental evaluation, prevention, and treatment for children with MPS. The study provides valuable insights into the oral manifestations of MPS and emphasizes the need for integrated dental care in their healthcare regimen. [Extracted from the article]

A recent study conducted by researchers in the Department of Pediatric Cardiology examined the effects of glycosaminoglycan (GAG) accumulation on the large vessels of patients with mucopolysaccharidosis (MPS). The study found that aortic elasticity properties were impaired and aortic stiffness increased in the MPS group. However, enzyme replacement therapy (ERT) was found to have positive effects on cardiac function, aortic diameter, and aortic stiffness in MPS patients. The study also noted a correlation between increased left ventricular mass and impaired ventricular geometric structure with increased aortic stiffness. [Extracted from the article]

A recent preprint study investigated the role of extracellular vesicles (EVs) released by microglial cells in mucopolysaccharidosis type III (MPSIII), a neurodegenerative disorder. The study found that these EVs contained specific molecules related to neuroinflammation and neurodevelopment pathways. When cortical neurons were treated with these EVs, they exhibited alterations in their somato-dendritic compartments. This research provides insights into the potential mechanisms underlying MPSIII neuropathology and may contribute to the development of biomarkers for evaluating emerging therapies. However, it is important to note that this study has not yet undergone peer review. [Extracted from the article]

REGENXBIO Inc. has been issued a patent for a method of treating mucopolysaccharidosis II (MPS II), also known as Hunter syndrome. MPS II is a rare genetic disease caused by a deficiency of the enzyme iduronate-2-sulfatase. The patent describes a method of delivering recombinant human iduronate-2-sulfatase (rhIDS) to the central nervous system (CNS) and liver through gene therapy or enzyme replacement therapy (ERT). The goal is to correct the enzymatic defect in the recipient cells and reduce the need for systemic treatment. This patent offers potential advancements in the treatment of MPS II. [Extracted from the article]

A recent study conducted at the University of Uppsala in Sweden has explored potential treatments for mucopolysaccharidoses, a genetic disorder characterized by the accumulation of glycosaminoglycans (GAGs) in cells. The researchers focused on inhibiting the production of iduronic acid, a key component of GAGs, as a potential therapeutic approach. Through virtual screening and testing, they identified two compounds that effectively inhibited the production of iduronic acid and reduced GAG accumulation in cells. These findings suggest that these compounds could be further developed as potential drugs for treating mucopolysaccharidoses. [Extracted from the article]

A recent study conducted by researchers at National Taiwan University Hospital and School of Medicine has shed light on mucopolysaccharidoses (MPS) type II, a rare genetic disorder characterized by the accumulation of glycosaminoglycans (GAGs). The study utilized induced pluripotent stem cells (iPSCs) to generate mature neurons and investigate the neurodegeneration-related pathways in MPS II. The researchers identified dysregulation in three major signaling pathways, including Wnt/b-catenin, p38 MAP kinase, and calcium pathways, in mature MPS II neurons. Additionally, they found that a small-molecule glycogen synthase kinase-3b inhibitor showed promise in rescuing neuronal survival and function. These findings contribute to a better understanding of the mechanisms underlying MPS II and offer potential therapeutic targets for the disease. [Extracted from the article]

This article discusses a study on mucopolysaccharidoses (MPS), which are lysosomal storage diseases that result from defects in the breakdown of glycosaminoglycans. The study found that patients with neurological MPS have reduced activity of the enzyme neuraminidase 1 (NEU1) in their brain tissues. This deficiency in NEU1 leads to disruptions in the lysosomal multienzyme complex and abnormal sialylation of glycoproteins, which are implicated in neurological deterioration. The researchers also demonstrated that correcting NEU1 activity in mice improved symptoms associated with MPS. However, it is important to note that this study has not yet undergone peer review. [Extracted from the article]

A recent report from the Children's Hospital of Zhejiang University School of Medicine in Hangzhou, China, discusses the use of tandem mass spectrometry (MS/MS) in the screening and diagnosis of mucopolysaccharidoses (MPSs). MPSs are a group of disorders caused by a deficiency in the enzymes needed to break down glycosaminoglycans (GAGs) in the lysosome. Early diagnosis is crucial for improving prognosis, but children with MPSs are often diagnosed late. MS/MS can be used to screen children at an early stage of the disease, evaluate treatment effectiveness, and identify suitable biomarkers for early diagnosis. Further research is needed to explore the potential of MS/MS in this field. [Extracted from the article]

A recent study examined cardiovascular abnormalities in parents of children with mucopolysaccharidoses (MPS), a group of lysosomal storage diseases. The study found that cardiovascular pathology, including valvular defects, myocardial hypertrophy, and coronary artery disease, occurs in parents of MPS carriers. The study also identified other cardiac abnormalities such as decreased left ventricular ejection fraction, thickening of the mitral valve leaflets, and conduction disorders. These findings suggest that parents of MPS carriers may experience clinical manifestations of cardiac involvement. However, it is important to note that this study has not yet undergone peer review. [Extracted from the article]

Researchers from Washington University School of Medicine have conducted a study on gene therapy for mucopolysaccharidosis IIIB (MPS IIIB), also known as Sanfilippo Syndrome B. The study aimed to identify early markers of the disease in a mouse model and explore various behavioral domains. The researchers observed disrupted ultrasonic vocalizations, thermoregulation, and social behavior in the MPS IIIB mice. The study provides valuable baseline information for future evaluations of potential treatments for MPS IIIB. [Extracted from the article]

A recent study conducted by researchers at Takeda Development Center Americas Inc. focused on Mucopolysaccharidosis II (MPS II), a rare lysosomal storage disease. The study aimed to evaluate the cognitive function of patients with neuronopathic MPS II, which is challenging due to limited testing options. The researchers conducted semi-structured interviews with principal investigators involved in clinical trials of intrathecal idursulfase (idursulfase-IT), a potential treatment for MPS II. The results showed that a majority of patients experienced improved or stabilized disease status with idursulfase-IT treatment. The study emphasizes the need for robust assessment tools in evaluating treatment outcomes for patients with neuronopathic MPS II. [Extracted from the article]

A recent study conducted by the National Institute of Health in Portugal has focused on mucopolysaccharidoses, a type of lysosomal storage disorder. The researchers successfully established and characterized stem cell lines from deciduous baby teeth of patients with mucopolysaccharidosis type II (MPS II). This is the first time stem cells have been isolated from dental pulp samples of patients with this disorder. The researchers believe that these patient-derived dental pulp stem cells could serve as a valuable disease model for further research and screenings, particularly in labs with limited resources. [Extracted from the article]

A recent study conducted by researchers at the University of Gdansk in Poland has provided new insights into mucopolysaccharidoses (MPS), a group of diseases caused by mutations in genes that encode lysosomal enzymes. The study aimed to identify genes related to cellular organelles whose expression levels are changed in neuronopathic types of MPS compared to healthy cells. The researchers found that genes associated with the cell nucleus, endoplasmic reticulum, and Golgi apparatus were affected in neuronopathic MPS. These findings could potentially serve as biomarkers for neurodegeneration in MPS and may also become targets for therapies for neurological disorders associated with MPS. [Extracted from the article]

A recent study conducted at Kumamoto University in Japan explored the experiences of caregivers of patients with Mucopolysaccharidosis II (MPS II) who were treated with pabinafusp alfa, an enzyme replacement therapy. The study involved qualitative interviews with seven caregivers, representing children aged 8-18 years who had received the treatment for 3.3-3.5 years. The findings indicated that caregivers observed improvements in various aspects of the patients' quality of life, including cognitive abilities, musculoskeletal function, and somatic changes. The study contributes to understanding the potential benefits of pabinafusp alfa in treating MPS II and may inform future clinical trials. [Extracted from the article]

A recent study conducted by researchers at the University Institute of Clinical Chemistry focused on mucopolysaccharidoses (MPS), a group of genetic disorders. The study aimed to improve the accuracy of MPS diagnosis by analyzing specific glycosaminoglycan (GAG) ratios in urine samples. The researchers found that using GAG ratios in combination with GAG concentrations normalized to creatinine improved the diagnostic accuracy for certain types of MPS. However, they also noted that urinary tract infections (UTIs) can lead to false positive results, particularly for MPS type IV. Overall, the study highlights the potential of GAG ratios in enhancing the discrimination of MPS types. [Extracted from the article]

Researchers from Pontifical University Javeriana have conducted a study on mucopolysaccharidoses (MPS), a group of monogenic diseases characterized by mutations in genes associated with lysosomal function. The study focused on the role of epigenetic mechanisms in the pathogenesis of two specific types of MPS, MPS IIIB and MPS IVA. The findings revealed global DNA hypomethylation and increased histone acetylation in cells from MPS IIIB and MPS IVA patients, indicating a shift towards relaxed open chromatin. The study suggests that epigenetic mechanisms play a significant role in modulating the phenotypic variations observed in MPS and could potentially provide insights into therapeutic interventions for these diseases. [Extracted from the article]

A recent study conducted at the Liverpool Heart and Chest Hospital in the United Kingdom has provided new insights into the management of mucopolysaccharidoses (MPSs) in adult patients undergoing cardiac surgery. MPSs are rare genetic disorders that result in the accumulation of certain substances in the body's tissues. The researchers used innovative techniques such as three-dimensional modeling and virtual reality to assess and simulate the airways of five adult MPS patients. The study emphasized the importance of a multidisciplinary approach and collaboration with clinical engineering to ensure safe and successful surgical outcomes for these patients. [Extracted from the article]

Researchers at Ajou University Hospital in Suwon, South Korea have conducted a study on mucopolysaccharidoses (MPS VI), a lysosomal storage disorder. The study focused on the use of leukocyte glycosaminoglycans (GAGs) as biomarkers for intracellular GAG accumulation in MPS VI patients. The researchers found that leukoCS and leukoDS levels were significantly higher in MPS VI patients compared to control subjects, suggesting that leukoGAGs could be a valuable biomarker for patient management. This study provides new insights into the diagnosis and monitoring of MPS VI. [Extracted from the article]

Researchers at Federal University Rio Grande do Sul in Porto Alegre, Brazil have conducted a study on mucopolysaccharidoses, a group of metabolic disorders. The study aimed to develop a cellular model for mucopolysaccharidosis type II (MPS II) and investigate the effects of genistein and coenzyme Q10 on oxidative stress and mitochondrial dysfunction. The researchers found that the cellular model exhibited characteristics of MPS II, including the accumulation of glycosaminoglycans (GAGs). Genistein was found to decrease the production of reactive species, while coenzyme Q10 had no effect. The study suggests that the cellular model represents a milder form of MPS II. [Extracted from the article]

A systematic review conducted in Monza, Italy examined the role of adenotonsillectomy (ADT) in treating obstructive sleep apnea (OSA) in children with mucopolysaccharidosis (MPS). The review included 19 studies with a total of 1406 subjects, and found that over half of the children with MPS underwent ADT for OSA treatment. However, there was limited evidence demonstrating improvement in polysomnographic parameters after surgery. The researchers suggest that a multidisciplinary approach may be beneficial in identifying which children with MPS would benefit from ADT for OSA treatment. [Extracted from the article]

A recent study conducted by researchers at Washington University School of Medicine has shed light on the vascular involvement in mucopolysaccharidosis type I (MPS I), a genetic disorder. The study found that vascular disease in MPS I shares similarities with atherosclerotic disease, such as intimal thickening and proliferation of macrophages and myofibroblasts. The researchers discovered that treatment with the angiotensin receptor blocker losartan, in combination with enzyme replacement therapy (ERT), normalized levels of cytokines that were differentially expressed in normal and mutant mice. This suggests that losartan may have a positive impact on inflammatory cascades associated with MPS I and may reduce inflammation when combined with ERT. [Extracted from the article]

A recent report from the All India Institute of Speech and Hearing discusses the impact of Hunter syndrome, a rare lysosomal storage disorder, on a child diagnosed at the age of 4. The study explores the pathophysiology, diagnosis, audiological profiling, rehabilitation, and prognostic factors of Hunter syndrome. The research emphasizes the importance of early identification, appropriate profiling, and multidisciplinary management for the disorder. The findings suggest the need for early intervention and suitable rehabilitative measures for individuals with Hunter syndrome. [Extracted from the article]

A recent study conducted by researchers at the University of Gdansk in Poland has explored the efficacy of a combination therapy using laronidase and genistein in treating mucopolysaccharidosis type I (MPS I) in a mouse model. MPS I is a lysosomal storage disorder caused by a deficiency of a-L-iduronidase. The standard treatment, enzyme replacement therapy with laronidase, has limited effectiveness in treating neurological symptoms due to poor blood-brain barrier penetration. The study found that the combination therapy resulted in reduced glycosaminoglycan (GAG) storage in the heart and liver, while genistein alone reduced brain GAG storage. However, the combination therapy negated some of the benefits of laronidase in terms of heparin cofactor II-thrombin (HCII-T) levels. The findings offer valuable insights for future research to optimize treatments for MPS I. [Extracted from the article]

A recent study conducted by researchers at the University of Minnesota explored the effectiveness of different routes of administration for treating mucopolysaccharidosis type II (MPS II), a lysosomal disease. The study compared the intravenous and intrathecal routes of administration in a mouse model of MPS II. The researchers found that higher doses of the treatment resulted in improved outcomes, with a dose of 1 x 10^10 gc normalizing metabolic and skeletal outcomes, and a dose of 1 x 10^11 gc leading to neurologic improvement. These findings suggest the potential for similar benefits in humans. The study was supported by the National Institutes of Health and Regenxbio Inc. [Extracted from the article]

A recent study conducted at Christian Medical College in Tamil Nadu, India, examined the cardiac involvement and genetic profile of pediatric patients with mucopolysaccharidoses (MPS), a rare metabolic disorder. The study found that cardiac abnormalities were prevalent in the pediatric MPS cohort, ranging from valvar thickening to more severe conditions such as valvular insufficiency and left ventricular hypertrophy. The researchers emphasized the importance of early detection and monitoring through echocardiography to guide timely interventions and improve patient outcomes. The study highlights the need for increased awareness among caregivers about the importance of early cardiac evaluation for pediatric MPS patients. [Extracted from the article]

Researchers at the University of Washington have developed a new assay for the diagnosis of Mucopolysaccharidosis II (MPS-IIID), a genetic disorder that affects carbohydrate metabolism. The assay uses dried blood spots and tandem mass spectrometry to measure the activity of the enzyme N-acetylglucosamine-6-sulfatase (GNS), which is inhibited in MPS-IIID patients. The assay has been shown to be effective in distinguishing affected patients from healthy individuals and can be added to a multiplex panel for the diagnosis of various subtypes of MPS. The research was supported by the National Institutes of Health. [Extracted from the article]