MPS I, or Hurler syndrome, is an inherited genetic disorder. It's caused by a problem with a specific enzyme in the body.
Understanding MPS I
MPS I, also known as Hurler syndrome, falls under the category of lysosomal storage disorders. This means it involves issues with lysosomes, which are parts of cells responsible for breaking down and recycling materials.
What causes MPS I?
- Enzyme Deficiency: MPS I happens because the body doesn't have enough of the enzyme alpha-L-iduronidase.
- Inherited Condition: It's an autosomal recessive disorder, meaning a person must inherit two copies of the faulty gene (one from each parent) to have the disease.
- Glycosaminoglycans (GAGs): This enzyme is crucial for breaking down substances called glycosaminoglycans (GAGs). When the enzyme is deficient, GAGs build up in the body's cells and tissues.
How does MPS I affect the body?
The accumulation of GAGs in the body can lead to a variety of problems:
- Skeletal Abnormalities: Bone and joint issues, including abnormal growth.
- Organ Enlargement: The liver and spleen may become enlarged.
- Developmental Delays: Cognitive and physical development can be impacted.
- Heart Problems: Heart valve problems and other cardiac issues can occur.
- Respiratory Issues: Breathing difficulties are common due to airway obstruction and other factors.
- Characteristic Facial Features: Individuals may have distinctive facial features.
Key Characteristics of MPS I
| Characteristic | Description |
|---|---|
| Genetic Basis | Autosomal recessive; deficiency of alpha-L-iduronidase. |
| Enzyme Deficiency | Lack of or insufficient alpha-L-iduronidase enzyme activity. |
| GAG Buildup | Glycosaminoglycans accumulate in various tissues and organs. |
| Symptoms | Skeletal problems, organ enlargement, developmental delays, heart issues, respiratory issues, and characteristic facial features. |
