Prolidase Deficiency

Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated with collagen metabolism and affects the connective tissues. This rare condition affects assorted systems because of an error on an enzyme, which is affiliated with the creation of collagen. Collagen is a powerful protein that is observed in the bones, tissues, and the skin. Collagen causes the degradation of iminodipeptides. Iminodipeptides are compounds, which break down to form amino acids. Prolidase is an enzyme responsible for the breaking down of iminodipeptides. In this condition there is a defect, which causes a lack of prolidase. Those affected by PD eliminate large quantities of iminodipeptides in their urine because of a deficiency in the prolidase enzyme. When the function of prolidase operates incorrectly it results in this recessive connective tissue condition (PD).

Prolidase splits dipeptides that contain C-terminal proline or hydroxyproline. When the amount of prolidase is insufficient, the typical recycling of the residues of proline, acquired from the degrading of collagen, is not functioning properly. As a result, there is an accumulation of iminodipeptides causes disruptions in the connective tissue metabolism and elimination of an excessive volume of iminodipeptides in the urine.

It is estimated that about 70 people with this condition have been recorded in medical literature. Those who have researched this disorder predict that this condition exists in about 1 in 1 million to 1 in 2 million newborns/infants. The characteristics of this disorder are extremely inconsistent in their expression.