Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Prolidase deficiency

Synonym(s) Hyperimidodipeptiduria
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset All ages
  • E72.8
  • C0268532
  • C1534653
  • D056732
MedDRA -


Prolidase deficiency is a very rare metabolic disease. Prevalence remains unknown but some 50 cases have been reported. It is characterized by mild to severe skin lesions particularly on the face, palms, lower legs and soles, together with other variable features. Patients excrete massive amounts of imidodipeptides in urine due to a deficiency of the exopeptidase prolidase. The activity of this enzyme can be measured in hemolysates, leukocytes or fibroblasts. The disorder is transmitted as an autosomal recessive trait and mutations in the PEPD gene on chromosome 19p13.2 have been observed. The skin ulcers respond partially to local treatment.

Expert reviewer(s)

  • Pr Jaak JAEKEN

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Clinical genetics review
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.