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About: Prolidase deficiency     Permalink

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Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen metabolism that affects connective tissues and thus a diverse array of organ systems more broadly, though it is extremely inconsistent in its expression. Due to a genetic defect, prolidase activity in individuals with PD is either knocked out or severely reduced. Those affected therefore eliminate excessive amounts of iminodipeptides in their urine, wasting this precious resource, with debilitating effects.

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