Prolidase Deficiency

Prolidase deficiency is an autosomal recessive disorder caused by mutations in the PEPD gene, which encodes prolidase, an enzyme involved in protein catabolism. Loss of enzyme function leads to impaired breakdown of proline-containing peptides, contributing to clinical manifestations. Patients often present with severe, progressive ulcerations of the lower extremities that can become chronic and difficult to treat. Recurrent infections are a significant complication and contribute to morbidity and mortality. Craniofacial abnormalities, particularly hypertelorism, are characteristic. Understanding the underlying enzyme defect and its systemic manifestations is critical for recognizing this rare but severe condition.

Prolidase Deficiency

Peppers = PEPD (peptidase) mutation
Leg wounds = Severe, progressive ulceration of the lower extremities
Coughing rabbit = Recurrent infections
Eyes far apart = Hypertelorism

Prolidase Deficiency Quiz

1 / 3

What physical feature is often observed in patients with prolidase deficiency?

Strabismus

Hypertelorism

Ptosis

Microcephaly

2 / 3

What is a common cutaneous manifestation of prolidase deficiency?

Severe, progressive ulceration of the lower extremities

Small, raised bumps on the skin

Excessive sweating and redness

Dry skin and rashes

3 / 3

What mutation is associated with prolidase deficiency?

JAG1 gene mutation

PRPP synthetase mutation

PEPD (peptidase) mutation

HGPRT gene mutation

Your score is

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