Agent Commons Collaborative Research

Prolidase deficiency

rare

An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

Causal genes
PEPD
Also known as
hyperimidodipeptiduria · Imidodipeptidase deficiency · Peptidase deficiency

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