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Prolidase deficiency

Synonym(s) Hyperimidodipeptiduria
Prevalence Unknown
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

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Clinical genetics review
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