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Zpráva o onemocněních · Dermatological

Prolidase Deficiency

Whole genome sequencing reads the PEPD gene for changes in both copies that cause prolidase deficiency, a metabolic condition linked to long-lasting skin ulcers and frequent infections.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A rare inherited metabolic disorder that affects the recycling of collagen, causing long-lasting skin ulcers, frequent infections and sometimes learning difficulties. It is caused by changes in both copies of the PEPD gene.

Prolidase deficiency is a rare inherited metabolic disorder that affects how the body recycles collagen, an important structural protein outside cells. Its most characteristic feature is chronic, painful skin ulcers, particularly on the lower legs and feet. People also tend to have recurrent infections, an enlarged spleen and distinctive facial features, and many have developmental delay or intellectual disability.

The condition is caused by changes in both copies of PEPD. This gene makes prolidase, an enzyme that breaks down small protein fragments containing proline during collagen recycling. Without enough working enzyme, these fragments build up, and urine tests show large amounts of proline-containing dipeptides. Autoimmune problems resembling lupus can occur less often.

Prolidase deficiency is inherited in an autosomal recessive way. Parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives. Knowing the cause helps guide wound care, prompt treatment of infections, developmental support and monitoring for autoimmune complications.

Onemocnění, které analyzujeme

Autozomálně recesivní

Prolidase deficiency is caused by changes in both copies of PEPD, which makes prolidase, an enzyme that breaks down small protein fragments containing proline during collagen recycling.

Příznaky a projevy

Chronic, painful skin ulcers, particularly on the lower legs and feet, are the most characteristic feature, often with other skin changes. Recurrent infections, especially of the skin, ears and respiratory tract, an enlarged spleen and distinctive facial features are common, and urine tests show large amounts of proline-containing dipeptides. Many have developmental delay or intellectual disability; less often there are autoimmune problems resembling lupus.

Co se diagnózou změní

Care focuses on wound care for skin ulcers, prompt treatment of infections, and developmental support, with monitoring for autoimmune complications. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.

Analyzované geny

Známé také jako

hyperimidodipeptiduria; Imidodipeptidase deficiency; Peptidase deficiency

MONDO:0008221OMIM 170100Orphanet 742MedGen 120647Zdroje: [1][2][3]

Proč sekvenování celého genomu

Prolidase deficiency is inherited from two carrier parents, so the gene result can guide family planning and testing of relatives.

Targeted care for skin ulcers

Skin ulcers may need a wound care specialist. Topical proline, often as a 5% ointment applied with dressing changes, has been successful in some affected people. Infections are treated promptly, and autoimmune features are monitored over time.

Carrier testing for relatives

Parents of an affected child are usually carriers, and each future child has a 1 in 4 chance of being affected. Carrier testing can be offered to relatives. Genetic counselling explains the recessive pattern.

Reference

  1. Rossignol F, Wang H, Ferreira C, 2015. Prolidase Deficiency. GeneReviews
  2. Prolidase deficiency. MedlinePlus Genetics
  3. Eni-Aganga I, Lanaghan ZM, Balasubramaniam M, Dash C, Pandhare J, 2024. PROLIDASE: A Review from Discovery to its Role in Health and Disease. Frontiers in molecular biosciences

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