Prolidase deficiency is a rare inherited disorder that affects the body's ability to break down proteins. It is caused by a deficiency of the enzyme prolidase, which is responsible for breaking down certain amino acids. Symptoms of the disorder can include skin rashes, recurrent infections, and poor wound healing.

The symptoms of Prolidase deficiency can vary from person to person, but may include:

-Skin rashes
-Recurrent infections
-Growth delays
-Developmental delays
-Cognitive impairment
-Seizures
-Hearing loss
-Vision problems
-Muscle weakness
-Joint pain
-Gastrointestinal problems
-Feeding difficulties
-Anemia
-Bleeding disorders
-Bone abnormalities

Prolidase deficiency is caused by mutations in the PEPD gene, which provides instructions for making an enzyme called prolidase. This enzyme is involved in the breakdown of certain proteins called peptides. Mutations in the PEPD gene reduce or eliminate the activity of prolidase, leading to a buildup of peptides in the body and the signs and symptoms of prolidase deficiency.

The primary treatment for Prolidase deficiency is dietary supplementation with L-proline and L-lysine. Other treatments may include vitamin B6 supplementation, enzyme replacement therapy, and gene therapy. Additionally, physical therapy and occupational therapy may be recommended to help manage any physical or developmental delays.

The primary risk factor for Prolidase deficiency is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, having a mutation in the PEPD gene, and having a deficiency in the enzyme prolidase.

There is currently no cure for Prolidase deficiency. However, medications such as vitamin B6, vitamin B12, and folate may be prescribed to help manage the symptoms. Additionally, dietary changes such as avoiding foods high in protein may be recommended.