Prolidase Deficiency

Synonyms

Deficiencies, Imidodipeptidase

Deficiencies, Prolidase

Deficiency, Imidodipeptidase

Deficiency, Prolidase

Hyperimidodipeptiduria

Hyperimidodipeptidurias

Imidodipeptidase Deficiencies

Imidodipeptidase Deficiency

Prolidase Deficiencies

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.