Mucopolysaccharides Acid Screen, Spot Urine

3Day(s)

المجموعة المرجعية

Mucopolysaccharidoses (MPS) are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans. Forms of MPS include Hunter syndrome, Hurler syndrome, Sanfilippo syndrome, Scheie syndrome, Morquio syndrome. These conditions cause mucopolysaccharides to build up in body tissues. This can damage organs, including the heart. Symptoms can range from mild to severe and may include: Abnormal features of the face, bone and connective tissue deformities, and mental retardation. This is a screening test, more sensitive and specific tests such as lysosomal enzymes activity are also available.

متطلبات خاصة

Fresh sample. Concentrated morning urine.

Ready within 3

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