Which of the following statement is false about Hurler syndrome:
**Core Concept**
Hurler syndrome is a rare genetic disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in lysosomes due to deficiency of alpha-L-iduronidase enzyme. It leads to impaired cellular function and tissue damage. Hurler syndrome is classified as a type of mucopolysaccharidosis.
**Why the Correct Answer is Right**
Hurler syndrome is a result of a deficiency in alpha-L-iduronidase enzyme, which is responsible for breaking down glycosaminoglycans (GAGs) in lysosomes. The deficiency leads to the accumulation of GAGs, causing damage to various tissues and organs. This is a crucial aspect of the disease pathogenesis.
**Why Each Wrong Option is Incorrect**
A. False: Hurler syndrome is a mucopolysaccharidosis, which is a group of genetic disorders characterized by GAG accumulation. This statement aligns with the pathogenesis of Hurler syndrome.
B. False: The accumulation of mucopolysaccharides in Hurler syndrome is due to alpha-L-iduronidase deficiency, not increased synthesis.
C. False: Hurler syndrome affects multiple organ systems, including the nervous system, cardiovascular system, and skeletal system.
D. False: Patients with Hurler syndrome typically present with severe developmental delay, joint stiffness, and skeletal abnormalities.
**Clinical Pearl / High-Yield Fact**
Mucopolysaccharidosis is a group of genetic disorders characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to lysosomal enzyme deficiencies. These disorders can affect multiple organ systems and lead to various clinical manifestations. It is essential for students to understand the underlying mechanisms and clinical features associated with mucopolysaccharidosis and Hurler syndrome specifically.
**Correct Answer:** D. False: Patients with Hurler syndrome typically present with severe developmental delay, joint stiffness, and skeletal abnormalities. This statement aligns with the clinical features of Hurler syndrome and is relevant for understanding the disease manifestations.