Beta-Glucuronidase, Serum

21Day(s)

Reference Range

Beta-glucuronidase is a lysosomal enzyme that catalyses the hydrolysis of B-D-glucuronic acid. It is present in the spleen, liver and endocrine glands. DEFICIENCY in beta glucuronidase results in the recessive inherited metabolic disease known as Sly syndrome or Mucopolysaccaridosis VII (MPS VII). This syndrome is characterized by the build-up of mucopolysaccharides in patients, and can result in hydrops fetalis prior to birth. Additionally, mental retardation, short stature, coarse facial features, spinal abnormalities, and enlargement of the liver and spleen are observed in surviving patients. Most children with Sly syndrome live into the teenage or young adult years.

Special Requirements

Ready within 21

Copyright © biolab 2018, Developed by Tech Factory

Hit enter to search or ESC to close