Preferred Label : Dermatan sulfate & heparan sulfate & keratan sulfate panel:-:Pt:Ser/Plas:-:;
LOINC status : ACTIVE;
LOINC display name : Dermatan sulfate & heparan sulfate & keratan sulfate panel;
LOINC long common name : Dermatan sulfate and heparan sulfate and keratan sulfate panel - Serum or Plasma;
LOINC short name : MPS panel SerPl;
LOINC description : 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];
Origin ID : 93726-8;
UMLS CUI : C5203360;
Has component
- Has system
- Has time aspect
- Panel of LOINC codes
- Semantic type(s)
