Imperial Collage Healthcare

Glycosaminoglycans (GAGs) (mucopolysaccharides)


Test Background
GAGs or mucopolysaccharides are long unbranched polysaccharides, made up of repeating disaccharides (eg. glucuronic acid, glucosamine, galactosamine and iduronic acid). They form an important component of connective tissues and chains may be covalently linked to proteins to form proteoglycans. The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of any one of the 11 lysosomal enzymes that degrade GAGs which, over time, accumulate within cells, connective tissue and the blood. Pathology manifests as neurological disorder (mental retardation, impaired motor function), recurrent respiratory infections, obstructive airway disease and skeletal malformation.


Clinical Indications
Presentation of classic failure to thrive symptomology in infants/children with (especially) profound mental retardation, the appearance of ‘Gargoyle-like’ skeletal lesions and cardiovascular complaint Dysmorphic presentation


Reference Range

See report


Sample Required
Random urine


Sample Volume
10 mL


Turnaround Time
5 weeks


Notes
Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information.

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