Bovine α-L-iduronidase,IDUA ELISA Kit
- Known as:
- Bovine α-L-iduronidase,IDUA Enzyme-linked immunosorbent assay test Kit
- Catalog number:
- BI002
- Product Quantity:
- 96T
- Category:
- -
- Supplier:
- Meretciel
- Gene target:
- Bovine α-L-iduronidase IDUA ELISA Kit
Related genes to: Bovine α-L-iduronidase,IDUA ELISA Kit
- 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
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- Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by mutations in IDUA, resulting in ⍺-L-iduronidase loss of function and glycosaminoglycan accumulation. Corneal clouding is the most consistent ocular manifestation and often prompts diagnostic evaluation. Retinal degeneration associated with MPS I has also been reported. The extent to which corneal clouding may be absent in MPS I, particularly in late adulthood, remains incompletely characterized. - Source: PubMed
Publication date: 2026/06/05
Miltich MichaelBiswas LeelabatiDuemler AnnaDaluvoy MelissaIannaccone AlessandroAlekseev Oleg - With the increasing use of DNA sequencing technologies in healthcare, an accurate understanding of the clinical relevance of genetic variants is vital for the appropriate integration of these results into personalized care. To address this need, the NIH-funded Clinical Genome Resource (ClinGen) Lysosomal Diseases Variant Curation Expert Panel (VCEP) has developed variant classification guidance for IDUA, the gene encoding alpha-L-iduronidase. Deficiency of alpha-L-iduronidase activity causes mucopolysaccharidosis type I (MPS I). IDUA variant interpretation was prioritized by the VCEP following the 2016 inclusion of MPS I in the Recommended Uniform Screening Panel (RUSP) for newborns in the USA, reflecting the critical role of IDUA sequencing in therapeutic decision-making and care of individuals identified through either newborn screening or diagnostic platforms. Furthermore, as genetic testing is increasingly used as a first line test in the diagnosis of lysosomal diseases, accurate variant classification is vital. The LD VCEP's IDUA-specific variant classification guidance is based on the American College of Medical Genetics & Genomics and Association for Molecular Pathology's (ACMG/AMP) variation classification guidelines [1], with criteria tailored specifically to IDUA and MPS I. To date, the LD VCEP has submitted classifications and supporting data for 131 IDUA variants to ClinVar and to the ClinGen Evidence Repository, where this data is publicly available. Here, we discuss the development of the ClinGen LD VCEP's IDUA-specific ACMG/AMP criteria, our results to date, challenges, and plans for future work. - Source: PubMed
Publication date: 2026/05/20
Lacaria MelanieGoldstein Jennifer LAschoff CarlosBrown KristenDeshpande DiptiChen-Deutsch XiangwenEllinwood MatthewFarman Mariam RMendez RobertoLouis Irina Vlasova-StProut JaimeRoark KatelynnSelvanathan ArthavanStafford AmberFernandez RaquelRatzsch Ashley CWeaver MeredithBali DeekshaDonti TarakaLund TroyPollard LauraVairo Filippo Pinto EWood TimothyRehder CatherineClarke Lorne - Gene therapy and hematopoietic stem cell transplantation (HSCT) have transformed outcomes for severe mucopolysaccharidosis type I (MPS I-H), yet a critical unmet need remains. Children with MPS I-H frequently experience progressive skeletal, cardiac, and other complications despite timely HSCT, largely because enzyme activity cannot be safely and precisely titrated over time. Irreversible genetic modification via integrating vectors offers supra-physiological enzyme levels but carries long-term safety and re-dosing liabilities in patients treated early in life. - Source: PubMed
Publication date: 2026/05/07
Reebye VikashSkourti-Stathaki KonstantinaVanezis KonstantinosSong MinsunPrzybilla Michael JPurdie KarinTesone Amelia JPizza GraziaJarvis ShebaRaulf NinaAndrikakou PinelopiVasara JenniSetten RyanNicholls JoannaHegre Siv AnitaSætrom PälHabib RobertHuang Kai-WenFarzaneh FarzinLi HaitangRossi John JTomatsu ShunjiKhan ShaukatFurness LauraWynn RobertWhitley Chester BJones Simon AHabib Nagy A - Biallelic variants in the gene are linked to Mucopolysaccharidosis type I (MPS I), a rare type I lysosomal storage disorder characterized by systemic manifestations of coarse facies, macrocephaly, hepatosplenomegaly, dysostosis multiplex, hearing loss, cardiac issues, airway involvement, hydrocephalus, and intellectual disability. Based on the age at which symptoms appear and the degree of intellectual impairment, MPS I can be categorized into Hurler, Hurler-Scheie, and Scheie syndromes. - Source: PubMed
Publication date: 2026/05/20
Chattannavar GouraSadhu PravalikaJalali SubhadraKekunnaya Ramesh - Mucopolysaccharidosis type IH (MPS IH) is a lysosomal disease caused by insufficient L-iduronidase (IDUA), resulting in progressive accumulation of glycosaminoglycans (GAGs) in the central nervous system (CNS). Hematopoietic cell transplantation (HCT) replaces IDUA through cellular cross-correction, stabilizing the CNS. Intravenous (i.v.) enzyme replacement therapy (ERT) is also effective at reducing GAG accumulation; however, it is thought to inefficiently cross the blood-brain barrier. To compare the effect of i.v. ERT on GAG degradation in the CNS with the effect of brain-penetrant therapy, i.e., HCT, we measured cerebrospinal fluid (CSF) GAG non-reducing ends in patients with MPS IH who were ERT-naive ( = 33), received i.v. ERT prior to HCT ( = 34), or underwent HCT ( = 26). We found that CSF GAGs (cGAGs) were 33%-65% lower in patients exposed to i.v. ERT. One year after HCT, cGAGs declined to their lowest levels. There was no difference in cGAG levels between patients treated with i.v. ERT for 52 weeks after HCT and those treated for only 8 weeks after HCT. In summary, i.v. ERT can lead to a significant decrease in cGAGs prior to HCT, indicating that i.v. ERT may affect CNS biomarkers, which reach their lowest levels with a brain-penetrant therapy. - Source: PubMed
Publication date: 2026/02/13
Lund Troy CWagner John ELong SusieGupta Ashish OOrchard Paul JBraunlin ElizabethWhitley Chester BEisengart Julie B