Prolidase Deficiency

Prolidase Deficiency

Prolidase deficiency is a rare autosomal recessive metabolic disorder characterised by impaired breakdown of specific dipeptides. Symptoms include chronic skin ulcers, recurrent respiratory infections, and intellectual disability. Prolidase deficiency results from mutations in the PEPD gene, affecting prolidase enzyme activity. Diagnosis is confirmed through genetic testing and enzyme assays. Treatment focuses on managing symptoms.