Article
Endocrinology & Metabolism
Arunabha Ghosh, Stewart Rust, Kia Langford-Smith, Daniel Weisberg, Maria Canal, Catherine Breen, Michelle Hepburn, Karen Tylee, Frederic M. Vaz, Andy Vail, Frits Wijburg, Claire O'Leary, Helen Parker, J. Ed Wraith, Brian W. Bigger, Simon A. Jones
Summary: This study found that high doses of genistein aglycone therapy did not lead to clinically meaningful reductions in cerebrospinal fluid heparan sulfate concentrations in Sanfilippo syndrome (mucopolysaccharidosis type III), but there was a statistically significant reduction in urinary glycosaminoglycan levels. Other biochemical and clinical parameters showed no significant differences between the two study groups.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Review
Medicine, General & Internal
Sophie Thomas, Uma Ramaswami, Maureen Cleary, Medeah Yaqub, Eva M. Raebel
Summary: MPS III, a rare lysosomal storage disorder, may have GI manifestations as an important cause of death. Early recognition and intervention of GI symptoms are crucial for the management of MPS III patients.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Marta Kaczor-Kaminska, Kamil Kaminski, Maria Wrobel
Summary: Mucopolysaccharidosis type IIIB is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase gene, resulting in reduced or absent enzyme activity. The disorder is characterized by the accumulation of heparan sulfate in lysosomes. This study reveals that the degradation of heparan sulfate produces monosaccharides and inorganic sulfate, which disrupts the metabolism of L-cysteine and leads to elevated levels of L-cysteine and reduced antioxidant potential in cells.
Review
Psychology, Developmental
Kimberly A. Schreck, Lindsay M. Knapp
Summary: This manuscript provides guidance for clinicians on distinguishing MPS-IIIA from ASD and offers insights into symptoms and clinical interventions.
REVIEW JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Clinical Neurology
Rita Barone, Agata Fiumara, Mariangela Gulisano, Lara Cirnigliaro, Maria Donatella Cocuzza, Claudia Guida, Fabio Pettinato, Filippo Greco, Maurizio Elia, Renata Rizzo
Summary: MPS III patients often exhibit developmental issues, sleep disturbances, and behavioral abnormalities early in life, with a proportion developing epilepsy. Research indicates that there are patterns in the presentation of epilepsy and EEG changes in MPS III patients.
FRONTIERS IN NEUROLOGY
(2021)
Article
Pediatrics
Ilyas Okur, Fatih Ezgu, Roberto Giugliani, Nicole Muschol, Anja Koehn, Hernan Amartino, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Heidi Peters, Joy Lee, Igor Nestrasil, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Summary: This study characterized the longitudinal natural history of disease progression in pediatric subjects with MPS IIIB. The majority of subjects achieved peak cognitive and adaptive behavior scores between ages 3 and 6, followed by a decline in cognitive function and cortical gray matter loss. Most subjects had elevated levels of HS and HS-NRE in cerebrospinal fluid and plasma. The findings suggest that MPS IIIB follows a predictable trajectory in terms of cognitive decline and gray matter atrophy.
JOURNAL OF PEDIATRICS
(2022)
Article
Health Care Sciences & Services
Min-Sun Kim, Aram Yang, Eu-Seon Noh, Chiwoo Kim, Ga Young Bae, Han Hyuk Lim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
Summary: This study analyzed the genetic and clinical characteristics of MPS III patients in Korea for the first time, revealing the natural history of the disease. The findings contribute to early diagnosis, timely management, and evaluation of treatment outcomes in future clinical trials for MPS III.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Clinical Neurology
Daniel Almeida do Valle, Mara Lucia Schmitz Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro
Summary: This study aimed to provide a comprehensive description of the neurological profile of children and adolescents with MPS III in South America. Most patients achieved development milestones within the expected range, with delays in walking and language acquisition. Profound intellectual disabilities and epilepsy were common, and their prevalence and severity increased with age. Antiseizure drug resistance was rare, and dysmorphological and systemic manifestations were mild and unrelated to neurological involvement. These findings contribute to the limited literature on MPS III in developing countries.
FRONTIERS IN NEUROLOGY
(2022)
Article
Immunology
Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L. A. Nguyen, TianMeng Xu, Camila Para, Yojiro Yamanaka, David A. Priestman, Frances M. Platt, Shaukat Khan, Nidhi Fnu, Shunji Tomatsu, Carlos R. Morales, Alexey Pshezhetsky
Summary: The majority of MPS IIIC patients have missense variants causing misfolding of HGSNAT, which can be potentially treated with pharmacological chaperones. A novel mouse model expressing a misfolded HGSNAT variant shows deficits in memory and neuroimmune response, which can be rescued by treatment with a chaperone, glucosamine.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Orthopedics
Sandra Rafaela Breyer, Eik Vettorazzi, Leonie Schmitz, Amit Gulati, Katharina Maria von Cossel, Alexander Spiro, Martin Rupprecht, Ralf Stuecker, Nicole Maria Muschol
Summary: This study revealed a high prevalence of hip pathologies in MPS III patients, with a significant correlation between severe phenotype and hip dysplasia with osteonecrosis of the femoral head. Radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS III patients.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2021)
Article
Endocrinology & Metabolism
Yingjun Liang, Xiaolan Gao, Deyun Lu, Huiwen Zhang, Zhang
Summary: This study analyzed the clinical, biochemical, and genetic characteristics of ten Chinese MPS IIIC patients from eight families. The mean age at symptom onset was 4.2 years old, and the mean age at diagnosis was 7.6 years old, suggesting a delay in diagnosis. The most common presenting symptoms were speech deterioration, followed by mental deterioration, hyperactivity, and hepatomegaly. All mutant alleles of the patients were identified, including eleven different HGSNAT variants, with the most common one being a previously reported variant.
METABOLIC BRAIN DISEASE
(2023)
Article
Biochemistry & Molecular Biology
Lidia Gaffke, Karolina Pierzynowska, Zuzanna Cyske, Magdalena Podlacha, Grzegorz Wegrzyn
Summary: Recent studies have shown that in addition to mutations in genes coding for enzymes involved in degradation of glycosaminoglycans (GAGs), changes in expressions of various genes may lead to cellular dysfunctions in mucopolysaccharidoses (MPS). This study found that vesicle trafficking regulation is affected in fibroblasts derived from MPS patients, and changes in levels of crucial proteins in this process contribute to the disease. Further experiments confirmed these findings, and transcriptomic analyses provided a global view of gene expression changes related to vesicle trafficking in MPS cells.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Review
Endocrinology & Metabolism
Berna Seker Yilmaz, James Davison, Simon A. Jones, Julien Baruteau
Summary: MPS III, a neurodegenerative disease, currently lacks disease-modifying therapy, but multiple curative therapies have been developed, emphasizing the importance of early treatment before extensive neuronal loss occurs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Oncology
Wei Huang, Yu-Shan Cheng, Shu Yang, Manju Swaroop, Miao Xu, Wenwei Huang, Wei Zheng
Summary: MPS IIIB is a lysosomal disease caused by mutations in the NAGLU gene, with no effective treatment currently available. The study showed that MPS IIIB neural stem cells and neurons can serve as a disease model system for evaluating drug efficacy and compound screening for drug development.
EXPERIMENTAL CELL RESEARCH
(2021)
Article
Biotechnology & Applied Microbiology
Paulina Anikiej-Wiczenbach, Arkadiusz Manski, Katarzyna Milska-Musa, Monika Limanowka, Jolanta Wierzba, Aleksander Jamsheer, Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Wegrzyn
Summary: This article describes a case of two siblings with highly diverse phenotypes of Mucopolysaccharidosis type IIIB (MPS IIIB), despite carrying the same mutations. Whole exome sequencing analysis revealed an additional mutation in one allele of the AUTS2 gene in the younger patient. The study suggests that the observed differences in phenotype may be attributed to the potentially pathogenic AUTS2 variant.
JOURNAL OF APPLIED GENETICS
(2022)