Prolidase deficiency is a rare autosomal recessive^[1] inborn error of metabolism.^[2][3]

Although metabolism of the amino acid proline is affected by the enzyme prolidase, this disorder is not to be confused with hyperprolinemia, which involves different enzymatyic pathways related to proline metabolism.

Diagnosis

Prolidase deficiency is characterized by severe skin ulcers, facial abnormalities, chronic joint dislocations, bacterial infections, and mental retardation.^[2] Asymptomatic patients, though rare, have also been recognized.^[4]. Due to this deficiency of the exopeptidase called prolidase, patients may also excrete large amounts of iminodipeptides in the urine, a condition called iminodipeptiduria.

Genetics

Prolidase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the PEPD gene on chromosome 19p13.2 have been observed to cause prolidase deficiency.^[5]

References

External links

• Prolidase deficiency on OrphaNet

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