Hyperprolinemia Type II synonyms
What other names are the Hyperprolinemia Type II known by? Synonyms and other terms with which Hyperprolinemia Type II is known.
Hyperprolinemia Type II, also known as Prolidase deficiency, is a rare autosomal recessive disorder characterized by the impaired activity of the enzyme prolidase. Prolidase is responsible for breaking down proteins containing proline, an essential amino acid, into smaller components for recycling in the body.
Individuals with Hyperprolinemia Type II experience a deficiency in prolidase enzyme activity, leading to the accumulation of proline-containing peptides and imidodipeptides in various tissues and body fluids. This condition primarily affects the skin, connective tissues, and other organs.
Symptoms of Hyperprolinemia Type II can vary widely among affected individuals. Common clinical features include:
- Recurrent skin ulcers
- Delayed wound healing
- Facial abnormalities
- Intellectual disability
- Developmental delay
- Seizures
- Joint stiffness
- Short stature
- Recurrent infections
Diagnosis of Hyperprolinemia Type II involves measuring prolidase enzyme activity in blood or skin fibroblasts. Genetic testing can also be performed to identify mutations in the PEPD gene, which encodes the prolidase enzyme.
Treatment for Hyperprolinemia Type II is primarily focused on managing the symptoms and complications associated with the condition. This may involve wound care, physical therapy, and supportive measures to address developmental delays and intellectual disability. Additionally, some individuals may benefit from dietary modifications, such as a low-proline diet or supplementation with specific amino acids.
Prognosis for individuals with Hyperprolinemia Type II can vary depending on the severity of symptoms. While some individuals may have a relatively mild course with minimal complications, others may experience significant disability and require ongoing medical care.
Overall, Hyperprolinemia Type II, or Prolidase deficiency, is a rare genetic disorder characterized by impaired prolidase enzyme activity. Early diagnosis and appropriate management can help improve the quality of life for affected individuals.
