Prolidase Deficiency

Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with mental retardation.

Also Known As:

Networked: 87 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Systemic Lupus Erythematosus (Libman-Sacks Disease)
2.	Ulcer
3.	Mental Retardation (Idiocy)
4.	Argininosuccinic Aciduria
5.	Respiratory Tract Infections (Respiratory Tract Infection)

Experts

1.	Forlino, Antonella: 9 articles (03/2015 - 10/2002)
2.	Rossi, Antonio: 7 articles (03/2015 - 09/2003)
3.	Kodama, Hiroyuki: 6 articles (09/2009 - 10/2003)
4.	Besio, Roberta: 5 articles (03/2015 - 05/2010)
5.	Lupi, Anna: 5 articles (05/2010 - 10/2002)
6.	Liu, Gang: 5 articles (09/2009 - 01/2004)
7.	Cetta, G: 5 articles (11/2008 - 05/2000)
8.	Manabe, Masanobu: 5 articles (07/2007 - 10/2003)
9.	Cetta, Giuseppe: 5 articles (12/2006 - 10/2002)
10.	Tenni, Ruggero: 4 articles (03/2015 - 12/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Prolidase Deficiency:

1.	proline dipeptidase (prolidase)IBA 09/18/2011 - "Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis." 01/01/1988 - "Biochemical studies on prolidase in sera from control, patients with prolidase deficiency and their mother." 03/01/1982 - "Biochemical studies on human prolidase (EC 3.4.13.9) and prolidase deficiency are described. " 03/01/2015 - "Mutations in the prolidase gene cause prolidase deficiency (PD), a rare recessive disorder. " 01/01/2013 - "Prolidase deficiency (PD) is an intractable loss of function disease, characterized by mutations in the prolidase gene. "
2.	AutoantigensIBA 12/01/2013 - "Prolidase deficiency may be associated with the loss of immune tolerance to lupus-associated autoantigens even without clinical SLE." 10/01/2007 - "In particular we discuss the role of highly increased rates of apoptosis and/or abnormal processing of apoptotic keratinocytes in prolidase deficiency and the role of C1q deficiency, which is associated with the failure of normal clearance of apoptotic cells bearing on their surfaces many of the autoantigens involved in systemic lupus erythematosus."
3.	Amino AcidsFDA Link 08/01/1977 - "Prolidase deficiency: report of a second case with quantitation of the excessively excreted amino acids." 07/01/2005 - "The purpose of this study was to investigate the effect of various amino acids and their metabolites on the activities of prolidase I and II from human erythrocytes compared to those in a patient with prolidase deficiency. " 12/01/2004 - "Effects of amino acids and its metabolites on prolidase activity against various iminodipeptides in erythrocytes from normal human and a patient with prolidase deficiency." 09/01/2009 - "The effect of various sulfur-containing amino acids on prolidase activity against methionylproline in erythrocyte lysates from a patient with prolidase deficiency was almost the same as that on prolidase II. The kinetics of the activities of prolidase I, II, and patient prolidase were also studied. " 01/01/2004 - "The effect of various amino acids and MnCl2 on prolinase activity in erythrocyte lysates from a healthy individual and a patient with prolidase deficiency was investigated. "
4.	Proline (L-Proline)FDA Link 04/01/2011 - "This work identifies dark-like mice as a model of prolidase deficiency that will be valuable for studying the role of proline metabolism in normal physiology and disease processes, and suggests that integrin signaling may regulate the onset of hypertrophic cardiac growth." 10/01/1992 - "Control fibroblasts were able to use iminodipeptides in lieu of proline to sustain normal growth, whereas cells homozygous for the prolidase deficiency mutation were not. " 04/19/1991 - "The synthetic iminodipeptides containing an N-terminal proline added to urine samples from a patient with prolidase deficiency were also distinguished from iminodipeptides containing a C-terminal proline in urine samples from a patient with prolidase deficiency by scanning the [M + H]+ ion of each iminodipeptide. " 12/01/1988 - "These values predict that donor erythrocytes, activated with Mn++ before transfusion could play a significant role in the recovery of proline from dietary sources of iminodipeptides in patients with prolidase deficiency." 01/01/1984 - "Two cases of prolidase deficiency showed a marked loss of activity against glycyl-proline irrespective of Mn2+ conditions. "
5.	CollagenIBA 05/01/1981 - "Studies on prolidase deficiency with a possible defect in collagen metabolism." 03/10/2013 - "Prolidase deficiency (PD) is a rare inborn disorder of collagen metabolism characterized by chronic recurrent cutaneous ulceration. " 01/01/1993 - "Normal production, nature, and extent of intracellular degradation of newly synthesized collagen in fibroblasts from a patient with prolidase deficiency." 01/01/1983 - "However, the relationship between accelerated collagen catabolism and prolidase deficiency remains unclear." 05/01/1981 - "It is suggested that prolidase deficiency and defect in collagen metabolism independent of it are both responsible for clinical manifestation."
6.	Glycine (Aminoacetic Acid)FDA LinkGeneric 09/01/2006 - "[Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency]." 06/01/1986 - "Effect of topical application of glycine and proline on recalcitrant leg ulcers of prolidase deficiency." 12/01/2004 - "The prolidase activity against methionylproline in erythrocytes from the patient with prolidase deficiency was also enhanced by glycine, L-alanine and L-serine. " 01/01/1996 - "Two ulcers in a 17-year-old girl with established prolidase deficiency were treated for 12 weeks with ointments containing amino acids in an open study comparing the effects of 5% proline and a combination of 5% proline plus 5% glycine. "
7.	Superoxides (Superoxide)IBA 11/01/1999 - "Corticosteroid treatment of prolidase deficiency skin lesions by inhibiting iminodipeptide-primed neutrophil superoxide generation." 03/15/1998 - "The aim of this study was to examine the effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency, and also to find the causative effects of superoxide on inflammatory skin lesions. " 03/15/1998 - "When the neutrophils from a patient with prolidase deficiency (PDPPMN) were preincubated with prolyl-proline (Pro-Pro), which is one of the iminodipeptides found at high concentration in the serum of patients with prolidase deficiency, the N-formyl-methionyl-leucyl-phenylalanine (fMLP)-induced superoxide generation was enhanced in a concentration-dependent manner, although the extent of enhancing effect was lower than that in neutrophils from healthy humans (HPPMN). " 03/15/1998 - "The effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency."
8.	AntibodiesIBA 12/01/1987 - "Immunochemical studies of human prolidase with monoclonal and polyclonal antibodies: absence of the subunit of prolidase in erythrocytes from a patient with prolidase deficiency." 01/01/1990 - "Cultured skin fibroblasts or lymphoblastoid cells from eight patients with clinical symptoms of prolidase deficiency were analyzed in terms of enzyme activity, presence of material crossreacting with specific antibodies, biosynthesis of the polypeptide, and mRNA corresponding to the enzyme. "
9.	Proteins (Proteins, Gene)IBA 03/15/1998 - "The aim of this study was to examine the effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency, and also to find the causative effects of superoxide on inflammatory skin lesions. " 03/15/1998 - "The effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency."
10.	Prednisolone (Predate)FDA LinkGeneric 03/15/1998 - "The aim of this study was to examine the effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency, and also to find the causative effects of superoxide on inflammatory skin lesions. " 03/15/1998 - "The effects of serum iminodipeptides and prednisolone on superoxide generation and tyrosyl phosphorylation of proteins in neutrophils from a patient with prolidase deficiency."

Therapies and Procedures

1.	Enzyme Replacement Therapy 11/01/2008 - "Recombinant human prolidase was produced in prokaryotic and eukaryotic hosts with biochemical properties similar to the endogenous enzyme and represents a valid tool both to better understand the structure and biological function of the enzyme and to develop an enzyme replacement therapy for the prolidase deficiency (PD). " 12/01/1988 - "In situ activation of human erythrocyte prolidase: potential for enzyme replacement therapy in prolidase deficiency."
2.	Hematopoietic Stem Cell Transplantation 01/01/2012 - "Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations."
3.	Microspheres (Microsphere) 05/01/2004 - "We have investigated whether biodegradable microspheres loaded with prolidase could release active enzyme inside cells, to consider this system as a possible therapeutic approach for prolidase deficiency. "
4.	Blood Transfusion (Blood Transfusions) 02/01/1992 - "Blood transfusions in the therapy of a case of prolidase deficiency."
5.	Blood Component Removal (Apheresis) 12/01/2002 - "Therapeutic apheresis exchange in two patients with prolidase deficiency."