Question

Hurler syndrome is an AR ____ storage disorder that presents with:

a) Lipid, hearing loss
b) Glycogen, muscle weakness
c) Mucopolysaccharide, developmental delay and facial abnormalities
d) Calcium, kidney stones

Answer 1

Hurler syndrome is an autosomal recessive mucopolysaccharide storage disorder characterized by developmental delay and facial abnormalities due to the accumulation of glycosaminoglycans.

Step-by-step explanation:

Hurler syndrome is an autosomal recessive (AR) mucopolysaccharide storage disorder that presents with c) Mucopolysaccharide, developmental delay, and facial abnormalities. This disorder is part of a group known as the mucopolysaccharidoses, which are hereditary disorders characterized by the accumulation of glycosaminoglycans (GAGs) in various tissues. This accumulation leads to skeletal deformities, developmental delay, and affects the extracellular matrix. The deficiency in one of the enzymes responsible for the lysosomal degradation of GAGs, such as heparin sulfate and dermatan sulfate, is what causes the signs and symptoms of Hurler syndrome, which include developmental delay and distinct facial abnormalities.