Maroteaux Lamy syndrome, also known as Mucopolysaccharidosis type VI (MPS VI), is a progressive condition where the body fails to properly break down certain complex sugar molecules called glycosaminoglycans (GAGs). This leads to a buildup of GAGs within cells, which then causes a variety of problems.
Understanding the Basics
Maroteaux-Lamy syndrome, or MPS VI, results in multiple issues because the buildup of these sugars affects many different systems of the body. Here's a breakdown:
- Progressive Nature: The condition worsens over time, with symptoms becoming more severe.
- Tissue and Organ Impact: The accumulation of GAGs causes tissues and organs to:
- Enlarge
- Become inflamed
- Develop scarring
- Eventually waste away (atrophy)
- Skeletal Abnormalities: Problems with bone and joint development are also common.
Key Characteristics of Maroteaux Lamy Syndrome
While the severity and specific manifestations of the disease can vary, some common issues include:
- Skeletal Issues:
- Abnormal bone growth
- Joint stiffness and limited mobility
- Skeletal deformities
- Organ Involvement:
- Enlarged liver and spleen
- Heart valve problems
- Respiratory issues
- Other Symptoms:
- Clouding of the cornea
- Hearing impairment
- Developmental delays
Reference:
The information about Maroteaux-Lamy syndrome is based on the provided reference: "Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). Skeletal abnormalities are also common in this condition.28-Jun-2021"
