In glycoprotein storage diseases (GSDs), certain subtypes of congenital disorders of glycosylation (CDGs), and in the mucolipidoses, there is an accumulation of oligosaccharides, free glycans, glycoamino acids, glycolipids and glycopeptides in the urine. Glycoprotein storage diseases are genetic conditions caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to process, break down and recycle materials in the cells. In individuals with GSD and related diseases, the missing or insufficient enzyme prevents the proper processing and recycling process, resulting in the storage of materials, called oligosaccharides or free glycans and glycoamino acids in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system, immune system and central nervous system. While the disease may or may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. The symptoms of these diseases may vary based on syndrome type, and in some cases may resemble a mucopolysaccharidosis disease.
This urinary oligosaccharide and glycan screening is using mass spectrometry, which provides a better sensitivity and specificity than the traditional TLC method. Different from the traditional TLC method, this method successfully detects subtle excretions of abnormal oligosaccharides in mucolipidosis II and III ( I cell disease) as well as other oligosaccharidoses. Conditions screened for are the following:
- Schindler disease
- Kanzaki disease
- Mucolipidosis II and III ( I cell disease)
- Pompe disease
- Tay Sachs / Sandhoff (GM2)
This test is indicated for:
- Patients whose clinical evaluations are suggestive of glycoprotein storage or mucopolysaccharidosis diseases.
- The test detects glycoprotein degradation defects.
- Multi-system disorders suggestive of congenital disorders of glycosylation, such as CDGIIb.
- Hydrops fetalis.
Abnormal results should be confirmed by enzyme or molecular analysis.
The traditional one-dimensional thin-layer chromatography method for urine oliogsaccharides analysis has limited specificity and sensitivity and provides no structural information that is often needed for diagnoses. This test provides a sensitive screening method for structural analysis of urinary oligosaccharides, glycan and glycoamino acids by liquid chromatography-mass spectrometry using quadrupole - time of flight detection.
Detection and Reference Range
Interpretation of the urinary oligosaccharide and free glycan profiles are using pattern recognition. Clinical correlations are important. Definite diagnoses should be confirmed by enzyme and molecular analysis.
Interpretation of the urinary oligosaccharide and free glycan profiles are using pattern recognitions.
Specimen Requirements:5-10ml urine in clean container without preservatives. First void preferred, but random accepted.
Specimen Collection and Shipping: For fresh sample, ship at room temperature for receipt at EGL within 24 hours of collection. For frozen sample, ship on dry ice with overnight delivery.
Include the family history, clinical condition (asymptomatic or acute episode), diet and drug therapy information.
- Lysosomal Enzyme Screen (LS)
- Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation (BCDGS)
- N-glycan Structural Analysis for CDGs (BNGLY)
- Mucopolysaccharide Screen (GA)
How to Order
- Comprehensive Biochemical Genetics Test Requisition Form
- Autism/Intellectual Disability/Developmental Delays Test Requisition Form
- Lysosomal Storage Disorders Test Requisition Form
- Congenital Disorders of Glycosylation Test Requisition Form
- Epilepsy and Related Disorders/Mitochondrial Disorders Test Requisition Form