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Pathway Description
Prolidase Deficiency (PD)
Homo sapiens
Disease Pathway
Prolidase deficiency is an autosomal recessive disorder. The enzyme prolidase cleaves iminodipeptides with N-terminal proline or hydroxyproline. Collagen has high levels of iminoacids therefore, these dipeptidases are important for collagen metabolism. A defect in this enzyme causes accumulation of imidodipeptides in urine. Symptoms include skin lesions, anemia, dysmorphism, mental retardation, and ptosis (drooping eyelid).
References
Prolidase Deficiency (PD) References
[Uniprot: P12955](http://www.uniprot.org/uniprot/P12955)
[OMIM: Entry 170100](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170100)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.82 Heilbronn: SPS Verlagsgesellschaft
Boright AP, Scriver CR, Lancaster GA, Choy F: Prolidase deficiency: biochemical classification of alleles. Am J Hum Genet. 1989 May;44(5):731-40.
Pubmed: 2705457
Endo F, Tanoue A, Kitano A, Arata J, Danks DM, Lapiere CM, Sei Y, Wadman SK, Matsuda I: Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. J Clin Invest. 1990 Jan;85(1):162-9. doi: 10.1172/JCI114407.
Pubmed: 1688567
Wysocki SJ, Hahnel R, Mahoney T, Wilson RG, Panegyres PK: Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urine. J Inherit Metab Dis. 1988;11(2):161-5.
Pubmed: 3139928
Ferreira C, Wang H: Prolidase Deficiency
Pubmed: 26110198
Wilk P, Uehlein M, Piwowarczyk R, Dobbek H, Mueller U, Weiss MS: Structural basis for prolidase deficiency disease mechanisms. FEBS J. 2018 Sep;285(18):3422-3441. doi: 10.1111/febs.14620. Epub 2018 Aug 14.
Pubmed: 30066404
Arginine and Proline Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Wu G, Bazer FW, Davis TA, Kim SW, Li P, Marc Rhoads J, Carey Satterfield M, Smith SB, Spencer TE, Yin Y: Arginine metabolism and nutrition in growth, health and disease. Amino Acids. 2009 May;37(1):153-68. doi: 10.1007/s00726-008-0210-y. Epub 2008 Nov 23.
Pubmed: 19030957
Wu G, Morris SM Jr: Arginine metabolism: nitric oxide and beyond. Biochem J. 1998 Nov 15;336 ( Pt 1):1-17. doi: 10.1042/bj3360001.
Pubmed: 9806879
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