Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Mucopolysaccharidosis type IIIB (MPS IIIB), also called Sanfilippo syndrome B, is a lysosomal storage disease caused by abnormal degradation of heparan sulfate. It is characterized by progressive neurological deterioration with developmental regression and behavioral abnormalities. Additional clinical manifestations can include musculoskeletal anomalies, hearing loss, respiratory tract anomalies, and cardiovascular disease. Here, we report a second individual with MPS IIIB and chronic pancytopenia. To support our hypothesis of a pathophysiological relationship between these clinical findings, we performed hematological studies in MPS IIIB mice, which revealed a microcytic anemia as well as a decreased monocyte count, without thrombocytopenia. Hematological findings are thought to be secondary to MPS IIIB even though the exact pathophysiological mechanism remains to be determined. Although it likely represents an uncommon clinical feature, we suggest that complete blood count should be considered as part of the clinical surveillance for individuals with MPS IIIB.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/cge.14773 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.
Orphanet J Rare Dis
August 2025
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Background: Lysosomal storage diseases (LSDs) is a large group of genetically heterogeneous inherited metabolic disorders that affect the functions of the lysosomes in various human tissues. Mucopolysaccharidosis type IIIA (MPSIIIA), Sanflippo syndrome A, is a rare autosomal recessive LSD caused by biallelic variants in the SGSH gene, codes for the lysosomal enzyme heparan-N-sulphatase. This study aimed to find out the SGSH mutational spectrum, clinical and biochemical characteristics in a cohort of MPS IIIA Egyptian patients.
View Article and Find Full Text PDFHand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.
Mol Genet Metab Rep
September 2025
Paediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Mucolipidosis (ML) is a rare autosomal recessive lysosomal disorder with variable onset and severity: MLII, characterized by early onset and rapid progression, and MLIII, milder with late onset and prolonged survival. ML is due to mutations in the Golgi enzyme uridine diphosphate--acetylglucosamine-1-phosphotransferase, whose subunits are encoded by and genes. This report presents a particular case of infantile early-onset MLIII-gamma and emphasizes that articular manifestations can be a sign of a metabolic disease rather than a rheumatological or orthopedic one.
View Article and Find Full Text PDFThis study assessed the efficacy and safety of a biosimilar Laronidase (CinnaGen Company, Iran), compared to the reference Laronidase (Aldurazyme, BioMarin, USA) in maintaining urinary glycosaminoglycan (uGAG) levels in mucopolysaccharidosis type I (MPS I) patients. In this phase III, open-label, single-sequence, and cross-over study, MPS I patients received Aldurazyme for 12 weeks, followed by Laronidase (CinnaGen) for another 12 weeks. The primary outcome was the assessment of mean uGAG levels at the final visits of each medication administration.
View Article and Find Full Text PDFGene therapy for lysosomal storage diseases.
Brain Dev
August 2025
Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, 3-5-28, Nishi-Shimbashi, Minato-ku, Tokyo 105-8461, Japan. Electronic address:
Lysosomal storage diseases (LSDs) are metabolic disorders caused by the dysfunction of enzymes and other substances localized in lysosomes, known as intracellular organelles. There are many types of LSDs, with a wide range of clinical manifestations. LSDs are highly amenable to gene therapy due to various reasons, including the fact that they are essentially monogenic diseases and existence of cross-correction mechanisms.
View Article and Find Full Text PDFExploring Molecular and Phenotypic Characteristics of Arg234Gly and Asp312Asn Variants.
Mol Syndromol
August 2025
Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.
Introduction: Mucopolysaccharidosis type IIIB is an autosomal recessive lysosomal disorder caused by variants in the α-n-acetylglucosaminidase () gene. It is a progressive neurodegenerative disorder with no treatment. Previous enzyme therapies have been unsuccessful.
View Article and Find Full Text PDF