Prolidase Deficiency

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.

Also Known As:

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Prolidase Deficiency: 122
  - Skin Abnormalities: 159
    - Prolidase Deficiency: 122
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Prolidase Deficiency: 122
  - Genetic Skin Diseases: 47
    - Prolidase Deficiency: 122

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Therapy/Procedure