These sugars build up in cells and cause damage throughout the body. People with MPS I can't make a specific protein called alpha-L iduronidase, which is needed to break down sugars. You can't "catch" it - it comes from your genes. As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.MPS I stands for mucopolysaccharidosis type I.Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.Samples may be submitted without a collection kit by following the guidelines for specimen requirements and completing the requisition form.Please note that all biochemical assays require a dried blood spot sample or whole blood. Step-by-step instructions for collecting a DBS sample can be found here.Ensure that the patient sample is labeled with the patient name and date of birth.If you do not have a kit available in your office, please contact us here and we can have one sent out to your office. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs.Single exon CNVs can also be predicted, but reported after follow-up confirmation is performed. Copy number variation (CNV) of three exons or more is reported. This assay cannot detect variants in regions of the exome that are not covered, such as deep intronic, promoter, and enhancer regions, or areas containing large numbers of tandem repeats. IDUA sequencing is performed using NGS and analysis of all coding exons and 10bp of flanking intronic regions.MPS VII, Sly syndrome (β-glucuronidase).MPS VI, Maroteaux-Lamy syndrome (Arylsulfatase B).MPS IVB, GM1 Gangliosidosis (β-galactosidase).MPS IVA, Morquio syndrome, type A (N-acetyl galactosamine-6-sulfatase).MPS IIIB, Sanfilippo syndrome (α -N-acetylglucosaminidase).MPS II, Hunter syndrome (Iduronate-2-sulfatase).MPS I, Hurler, Hurler-Scheie, and Scheie syndrome (α-iduronidase).Enzyme activity is measured on dried blood spots (DBS) via Flow Injection Tandem Mass Spectrometry (FIA/MS/MS) for the following analytes:.α-L-iduronidase activity is measured on dried blood spots (DBS) via Flow Injection Tandem Mass Spectrometry (FIA/MS/MS).Severe MPS I occurs in approximately 1 in 100,000 newborns the incidence of the attenuated form is estimated at 1 in 500,000 newborns. Together the incidence of the MPS disorders is estimated at 1/25 000 births.
Both children and adults can have hepatosplenomegaly, joint stiffness, limited range of motion, joint contractures, carpal tunnel and corneal clouding. There is considerable phenotypic overlap among several MPS disorders and the following symptoms may prompt further examination: Children may have coarse facial features, early frequent upper-respiratory infections (including otitis media), inguinal or umbilical hernia, developmental delay and regression. 1 MPS I is inherited in an autosomal recessive manner. 2 Symptoms of MPS I range over a continuum of severity but are generally divided into severe MPS I (historically called Hurler syndrome) and attenuated MPS I (historically called Hurler-Scheie and Scheie syndromes), with a variable age of onset, progression, and organ involvement. 1 MPS I is caused by mutations in the IDUA gene responsible for producing α-L-iduronidase.
#Mps disease plus#
Mucopolysaccharidosis Ι (MPS Ι) is caused by a deficiency of the lysosomal enzyme α-L-iduronidase, leading to a buildup of its major substrates, the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate, resulting in developmental delay and regression, plus respiratory, cardiac, and musculoskeletal dysfunction. The progressive accumulation of some of these molecules, called glycosaminoglycans (chondroitin sulfate, heparan sulfate, dermatan sulfate and keratan sulfate) in various tissues leads to the different phenotypes seen in the MPS disorders. The mucopolysaccharidoses (MPS) are a group of inherited multisystem progressive disorders caused by deficiencies of the lysosomal enzymes that degrade complex disaccharides.