Mucopolysaccharidoses are a group of metabolic disorders that result from defects in the ability to break down mucopolysaccharides resulting in the buildup of sugars in tissues. Symptoms vary. Generally, patients appear normal at birth but exhibit progressive symptoms starting around one or two years of age including neurological defects, coarse facial features, skeletal abnormalities, heart issues, difficulties breathing, and enlargement of the liver and spleen. Symptoms are generally chronic but some patients develop severe complications that are life-threatening.
Please see the general information links or search OMIM for "mucopolysaccharidosis" for more information.
General information links for Mucopolysaccharidoses: