Ask about this productRelated genes to: IDUA antibody
- Gene:
- IDUA NIH gene
- Name:
- iduronidase alpha-L-
- Previous symbol:
- -
- Synonyms:
- MPS1
- Chromosome:
- 4p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: IDUA antibody
Related articles to: IDUA antibody
- Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by α-l-iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement. Wolf-Hirschhorn Syndrome (WHS) is a chromosomal disorder characterized by growth delay, dysmorphism, and developmental impairment. Because the gene is located within the 4p16.3 region, the coexistence of WHS and MPS I is biologically plausible but rarely documented. We describe a 2-year-old child of North African origin presenting with dysmorphic features, developmental delay, and thoracolumbar kyphosis. Chromosomal microarray analysis identified a 5.8 Mb deletion at 4p16.3-p16.2, confirming WHS at 17 months. However, additional clinical features remained unexplained. Incidentally, during a routine blood test, a blood smear revealed lymphocytes with metachromatic inclusions, raising suspicion of a lysosomal storage disorder. An enzymatic assay confirmed α-l-iduronidase deficiency, and molecular analysis identified biallelic pathogenic alterations in the gene located on chromosome 4p16.3, establishing the diagnosis of MPS I at 18 months. Enzyme replacement therapy was initiated at 19 months and was associated with stabilization of the somatic manifestations of MPS I, including improvement in respiratory symptoms. This observation highlights the risk of diagnostic overshadowing in rare diseases. A confirmed genetic diagnosis should not preclude further investigations when clinical features are discordant. - Source: PubMed
Publication date: 2026/09/06
Cifuentes-Uribe KarlaGirard SandrineFroissart RoselinePettazzoni MagaliGuffon Nathalie - Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by pathogenic variants in the SMPD1 gene, resulting in deficient acid sphingomyelinase activity and progressive lipid accumulation in multiple organs. Owing to its clinical heterogeneity and lower prevalence compared with Gaucher disease (GD), ASMD remains underrecognized, particularly given the substantial overlap in clinical features such as hepatosplenomegaly and cytopenias. We evaluated the contribution of multiplex measurement of enzyme activities by tandem mass spectrometry (MS/MS) on dried blood spots (DBS) for the incidental detection of ASMD in patients referred for suspected GD. - Source: PubMed
Publication date: 2026/08/19
Rivaux AntoineGuffon NathaliePagan CécileBrassier AnaïsGuérin FrançoisPasquier LaurentSekkach YoussefNdiaye BabacarFouilhoux AlainAcquaviva-Bourdain CécileRuet SéverineFroissart RoselinePettazzoni Magali - Mucopolysaccharidosis type I (MPS-I) is an inherited lysosomal storage disorder characterized by alpha-L-iduronidase deficiency, leading to progressive multi-organ damage and fatal complications. Early treatment is crucial to improve outcomes, particularly in patients with severe phenotypes. We present the first case of successful allogeneic bone marrow transplantation (BMT) for MPS-I in Vietnam. A 10-month-old girl experienced coarse facial features, congenital dermal melanocytosis spots, kyphoscoliosis developmental delay. Laboratory analyses revealed reduced alpha-L-iduronidase activity and elevated urinary glycosaminoglycans, genetic mutations identified two heterozygous mutations in the gene, confirmed the diagnosis of MPS-I. At 3 years old, she underwent allogeneic BMT from an HLA-matched sibling donor following conditioning regimen with busulfan, cyclophosphamide, antithymocyte globulin. Neutrophil engraftment was achieved on day +24, and platelet engrafted on day +32. The post-transplant course was complicated by respiratory deterioration requiring 5 days of mechanical ventilation, which was promptly managed and resolved. No graft-versus-host disease occurred. Post-transplant chimerism showed 95.77% donor-derived cells on day +30 and remained stable at 100% from 2 months. The patient demonstrated improvement in clinical symptoms, accompanied by alpha-L-iduronidase activity returned to normal range, urinary glycosaminoglycan levels decreased and remained stable during follow-up. At 12 months, she demonstrated complete immune reconstitution. This case suggests that allogeneic BMT may be a therapeutic approach for patients with MPS-I in resource-limited settings. - Source: PubMed
Publication date: 2026/08/03
Nguyen-Ngoc-Quynh LeCan-Thi-Bich NgocDang-Anh DuongDang-Thi HaTa-Thi ThoaNguyen-Thanh BinhVu-Chi DungTran-Minh DienCao-Viet Tung - : Despite significant advances in identifying genetic risk factors for multiple sclerosis (MS), the causal involvement of circulating proteins in disease development and severity remains largely unexplored. Understanding these protein-mediated pathways could reveal novel therapeutic opportunities for this complex neurological disorder. : We performed a proteome-wide Mendelian randomization study integrating data from four large-scale protein quantitative trait loci studies to investigate causal relationships between plasma proteins and both MS susceptibility and severity. : Our analysis revealed four plasma proteins with significant causal effects on MS susceptibility: ALPI and MXRA8 were associated with increased risk, while IDUA and NID2 showed protective effects. For disease severity, MANSC1 and LYVE1 were associated with worse disability, whereas CBR1 demonstrated protective effects. : Our study provides genetic evidence supporting associations between specific plasma proteins and MS susceptibility and severity, implicating biological pathways related to gut-brain axis signaling, extracellular matrix remodeling, and oxidative stress. These findings improve our understanding of MS biology and identify candidate proteins for future functional validation, therapeutic investigation, and biomarker research. - Source: PubMed
Publication date: 2026/07/16
Chen KeZou QinYao Yuan - The genetic architecture of idiopathic inflammatory myopathies (IIMs) remains incompletely defined. When increasing sample size is not feasible, cross-trait analysis of genetically correlated diseases offers an effective strategy for discovering risk loci. Using summary statistics of IIM and B cell lymphoma subtypes, we applied conditional false discovery rate (condFDR) and multi-trait analysis of genome-wide association studies (GWASs) (MTAG) to detect genetic associations with IIM risk. Single-nucleotide polymorphisms (SNPs) outside the human leukocyte antigen (HLA) region meeting significance thresholds (condFDR < 0.01 or p <5 × 10 for MTAG) were clumped and subjected to both functional annotation in FUMA and Gene Ontology (GO) biological process enrichment analysis using clusterProfiler. We identified six previously unreported loci, including three associated with dermatomyositis (chr12:58674304T>C, chr13:110799415C>T, and chr17:38103285G>A (hg19)) and three associated with polymyositis (PM) (chr4:971496T>C, chr6:396321C>T, and chr6:32650631C>A). All non-HLA loci act as expression quantitative trait loci (eQTL) or localize within enhancer regions. Notably, these include cis-eQTLs for known IIM risk-associated genes (GSDMB, DGKQ, SLC26A1, and IDUA) as well as genes implicated in synaptic vesicle cycle (SVC) pathways, immune regulation (IKZF3, ORMDL3, IRF4, DUSP22, and SPON2), protein homeostasis (ATP23 and PSMD3), lipid metabolism (PGAP3, ORMDL3, STARD3, and DGKQ), and myopathy (COL4A1). GO analysis revealed significance for SVC pathways in PM (FDR < 0.05). These findings advance our understanding of IIM pathogenesis from a genetic perspective and highlight candidate regulatory variants for further mechanistic investigation. - Source: PubMed
Publication date: 2026/07/24
Che Weng IanJarvis James NSysojev Anton ÖbergZhu CatherinePatasova Karina Smedby Karin ELundberg Ingrid EWesterlind HelgaLamb Janine AHolmqvist Marie