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