prolidase deficiency

prolidase deficiency
pro·li·dase de·fi·cien·cy (proґlĭ-dās) an autosomal recessive aminoacidopathy due to mutation in the PEPD gene (locus: 19cen-q13.11), which encodes X-Pro dipeptidase; defective cleavage of imidodipeptides results in imidodipeptiduria. Clinical manifestations are variable, but include chronic skin lesions, impaired motor or cognitive development, frequent infections, and skeletal abnormalities.

Medical dictionary. 2011.

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