Prolidase deficiency
Prolidase Deficiency
Prolidase deficiency (pronounced pro-li-dase de-fi-ciency) is a rare genetic disorder that affects the body's ability to break down certain proteins.
Etymology
The term "Prolidase deficiency" is derived from the name of the enzyme, Prolidase, which is deficient in individuals with this condition. The word "deficiency" comes from the Latin word "deficientia", meaning "a lack or shortage".
Definition
Prolidase deficiency is a disorder characterized by the body's inability to break down certain proteins due to a lack of the enzyme prolidase. This enzyme is responsible for the final step in the breakdown of dipeptides, which are proteins made up of two amino acids.
Symptoms
Symptoms of prolidase deficiency can vary widely among affected individuals. They may include skin lesions, recurrent infections, anemia, facial abnormalities, intellectual disability, and lung disease.
Causes
Prolidase deficiency is caused by mutations in the PEPD gene. This gene provides instructions for producing the enzyme prolidase, which is involved in the breakdown of proteins.
Diagnosis
Diagnosis of prolidase deficiency is typically made through genetic testing, which can identify mutations in the PEPD gene. Other diagnostic tests may include blood tests, urine tests, and skin biopsy.
Treatment
There is currently no cure for prolidase deficiency. Treatment is focused on managing symptoms and may include antibiotics for infections, wound care for skin lesions, and supplemental oxygen for lung disease.
Related Terms
External links
- Medical encyclopedia article on Prolidase deficiency
- Wikipedia's article - Prolidase deficiency
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