Mesh term Prolidase Deficiency
Browse to parent terms:Abnormalities, Multiple
Amino Acid Metabolism, Inborn Errors
Skin Abnormalities
Skin Diseases, Genetic
Description
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.Search for this term in our Faculty Database
View this term at the NCBI website
