Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen metabolism and in the terminal degradation of endogenous and dietary proteins. It typically begins in childhood and common symptoms include chronic intractable skin ulcerations and mental retardation. Mutations in prolidase gene causing the reduction or the loss of prolidase activity are responsible for PD.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H01119 Prolidase deficiency
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.
