What is Hurler Syndrome?

Hurler Syndrome, also known as mucopolysaccharidosis type I (MPS I), is a genetic disorder caused by a deficiency in the enzyme alpha-L-iduronidase. This deficiency leads to an accumulation of glycosaminoglycans (GAGs), which are complex carbohydrates involved in cellular structure and function. The buildup of these substances occurs in various tissues and organs, resulting in a range of symptoms such as developmental delay, skeletal abnormalities, and organ enlargement. The disorder is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to manifest the condition.

The other choices reflect conditions that do not correctly describe Hurler Syndrome. A metabolic disorder affecting kidney function does not encompass the specific symptoms or genetic basis of Hurler Syndrome. A viral infection transmitted through bodily fluids contrasts with the inherited genetic nature of the disorder. Lastly, a nutritional deficiency relates to growth issues, which is an entirely different category of health condition not associated with the biochemical and genetic defects seen in Hurler Syndrome. Thus, the correct characterization of Hurler Syndrome as a genetic disorder resulting in glycosaminoglycan buildup is essential for understanding its pathology and associated clinical manifestations.