Prolidase Deficiency


Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Deficiencies, Prolidase Deficiency, Prolidase Prolidase Deficiencies Imidodipeptidase Deficiency Deficiencies, Imidodipeptidase Deficiency, Imidodipeptidase Imidodipeptidase Deficiencies Hyperimidodipeptiduria Hyperimidodipeptidurias