Prolidase Deficiency
Prolidase Deficiency Causes
Prolidase deficiency is a very rare autosomal recessive condition caused by mutations in the PEPD gene on chromosome 19p 13.2
Prolidase Deficiency Definition
Prolidase deficiency is a rare inborn disorder of collagen metabolism characterized by severe ulcerations in the skin, characteristic facial abnormalities, unrelieved joint dislocations, mental retardation, and bacterial infections.
Prolidase Deficiency Diagnosis
Diagnostic routines possible include enzymatic test, partition and elution chromatography, and direct chemical ionization mass spectrometry. Chorionic villus sampling is a test done during the early part of pregnancy to detect any problems with the fetus especially for pregnant mothers who have a family history of inherited and genetic problems. This can be used to provide antenatal diagnosis of prolidase deficiency in an unborn child.
Prolidase Deficiency Symptoms and Signs
The hallmarks of prolidase deficiency are the characteristic facial features including drooping upper eyelid, saddle nose, and bulging eyes; and severe and recurring skin ulcers mostly located on the face, lower legs, palms, and soles of the feet. Psychomotor retardation may also occur as well as recurring and persistent infections.
Prolidase Deficiency Treatment
There is no efficient and effective treatment available to cure prolidase deficiency. Treatment is usually symptomatic and is very much focused on treating the skin ulcers manganese (cofactor of prolidase) oral ascorbate, and local application of ointments containing L-proline or glycine.