Rekord LOINC: 93726-8

Mucopolysaccharidoses (MPSs) are rare genetic disorders of glycosaminoglycan (GAG) catabolism caused by a deficiency in the activity of a single, specific lysosomal enzyme required for GAG degradation. GAGs include dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin sulfate. MPS patients have elevated GAG fragments in blood, urine and cerebral spinal fluid (CSF) as well as a buildup of incompletely degraded GAG in lysomes. The GAG accumulation interferes with normal cell, tissue and organ function, which may result in cardiac abnormalities, organ failure, cognitive impairment, and skeletal or joint abnormalities. There are nine primary MPS disorders, MPS I - MPS IX. Each type is associated with a specific enzyme deficiency and gene locus. Measuring GAG levels in urine can screen for MPS disorders, though false-negatives are common. To distinguish specific MPS disorders, enzyme activity assays based on cultured fibroblasts, leucocytes, plasma or serum are utilized. Predicting MPS disease severity is difficult for most types, however, patients who are homozygous for a nonsense allele or have two different nonsense alleles have the severe form of MPS I. [PMID: 22210669]

Chemistry; Chondroitin B sulfate; Chondroitin sulfate B; Dermatin; HS; keratosulfate; MPS panel; Mucopolysaccharides; Mucopolysaccharidosis; Pan; PANEL.CHEMISTRY; Panl; Pl; Plasma; Plsm; Pnl; Point in time; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SO4; SO4-2; SR; Sulf