What condition is caused by a deficiency in alfa-L-iduronidase?

Hurler Syndrome is caused by a deficiency in the enzyme alpha-L-iduronidase. This enzyme is crucial for the breakdown of glycosaminoglycans (GAGs), which are long chains of sugar molecules that play a vital role in building connective tissues. When alpha-L-iduronidase is deficient, GAGs accumulate in various tissues and organs, leading to the symptoms associated with Hurler Syndrome, such as developmental delays, cardiac problems, skeletal abnormalities, and distinct facial features.

In contrast, Hunter Syndrome is due to a deficiency of iduronate-2-sulfatase, Morquio Syndrome results from a deficiency in either galactose-6-sulfatase or beta-galactosidase, and Niemann-Pick Disease is caused by a deficiency in sphingomyelinase. Each of these conditions involves different enzymes and manifests with unique clinical features, highlighting the importance of understanding specific enzyme deficiencies in understanding metabolic disorders.