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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.. 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.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Prolidase_deficiency". A list of authors is available in Wikipedia.|