Prolidase deficiency

Prolidase deficiency is a rare autosomal recessive inborn error of metabolism which can cause mental retardation and severe skin ulcers in affected individuals. Asymptomatic patients have also been recognized.^[1]. Due to a deficiency in an exopeptidase called prolidase, patients excrete large amounts of iminodipeptides in the urine (known as iminodipeptiduria). Mutations in the PEPD gene on chromosome 19p13.2 have been observed.

References

1. ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.