Prolidase deficiency

Prolidase deficiency is an inherited metabolic disease. Prolidase is an enzyme involved in the breakdown of foods and endogenous proteins such as collagen, a component of the skin.

Symptoms are variable and may include recurrent infections, chronic leg ulcers, an enlarged spleen and characteristic facial features. Symptoms begin at birth or during the first two decades of life. Ulcers are the classical skin manifestations. They usually occur on the legs but have also been described in the genital area. Other dermatological manifestations include fragile skin on the lower limbs and genital area, atrophic scars and gray hair.

If prolidase deficiency is suspected, your doctor will order highly specialized tests. Many methods have been developed to diagnose this disease; they require reference laboratories.

1 - THERAPEUTIC TOOLS

Prolidase deficiency is an orphan disease and only a very few scientists in the world are researching treatments for this disease. Furthermore, the disease is too rare to be able to perform clinical trials. Although several topical and systemic treatments are used to manage the disease (Table I), no treatment has been clearly shown to be effective. Enzyme replacement is not yet possible. Most treatments that have been tried target the dermatological manifestations.

Prolidase cannot be administered directly because it does not have a specific membrane transport protein. Recently, prolidase encapsulated in nanoparticles or liposomes has been laboratory tested with success and is a promising therapeutic approach.

Genetic counseling corresponds to that of an autosomal recessive disease with particular emphasis on avoiding consanguineous marriage.