Prolidase Deficiency

**Definition:** Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.

**Tree numbers:** - C16.131.077.735 - C16.131.831.720 - C16.320.565.100.794 - C16.320.850.746

**Synonyms:** - Hyperimidodipeptiduria - Imidodipeptidase Deficiency