Prolidase deficiency

Disease Overview

Prolidase deficiency is a rare metabolic condition characterized by skin lesions, recurrent infections, unusual facial features, variable intellectual disability, enlargement of the liver (hepatomegaly) with elevated liver enzymes, and enlargement of the spleen (splenomegaly).[11027][11028][11029] Symptoms typically present during infancy and vary greatly among affected individuals.[11028] The condition is caused by mutations in the PEPD gene. It is inherited in an autosomal recessive pattern.[11027][11028][11029] Treatment for prolidase deficiency is symptomatic and supportive and often requires the expertise of a multidisciplinary team.[11027]

Synonyms

• Hyperimidodipeptiduria
• Imidodipeptidase deficiency
• Peptidase deficiency
• PD