Alpha-L-Iduronidase, Blood Spot Clinical Information Discusses
physiology, pathophysiology, and general clinical aspects, as
they relate to a laboratory test The mucopolysaccharidoses are a
group of lysosomal storage disorders caused by the deficiency of
any of the enzymes involved in the stepwise degradation of
dermatan sulfate, heparan sulfate, keratan sulfate, or
chondroitin sulfate (glycosaminoglycans; GAG). Accumulation of
GAG (previously called mucopolysaccharides; MPS) in lysosomes
interferes with normal functioning of cells, tissues, and
organs. There are 11 known disorders that involve the
accumulation of GAG. MPS disorders involve multiple organ
systems characterized by coarse facial features, cardiac
abnormalities, organomegaly, intellectual disabilities, short
stature and skeletal abnormalities. Mucopolysaccharidosis I (MPS
I) is an autosomal recessive disorder caused by a reduced or
absent activity of the enzyme alpha-L-iduronidase due to
mutations in the IDUA gene. More than 100 mutations have b