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Abnormal circulating proline concentration

MedGen UID:
1684683
•Concept ID:
C5139047
•
Finding
Synonym: Abnormality of proline metabolism
 
HPO: HP:0010907

Definition

Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. [from HPO]

Recent clinical studies

Etiology

Bone disease in long-term adult kidney transplant patients with normal renal function.
Montalban C, de Francisco AL, Mariñoso ML, Zubimendi JA, García Unzueta M, Amado JA, Arias M
Kidney Int Suppl 2003 Jun;(85):S129-32. doi: 10.1046/j.1523-1755.63.s85.31.x. PMID: 12753284
Angiotensin II concentrations and gut mucosal perfusion in infants undergoing cardiopulmonary bypass.
Booker PD, Davis AJ, Diver MJ, Whitehead CF
J Cardiothorac Vasc Anesth 1999 Aug;13(4):446-50. doi: 10.1016/s1053-0770(99)90218-5. PMID: 10468259

Diagnosis

Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes.
Valle D, Goodman SI, Applegarth DA, Shih VE, Phang JM
J Clin Invest 1976 Sep;58(3):598-603. doi: 10.1172/JCI108506. PMID: 956388Free PMC Article

Therapy

Bone disease in long-term adult kidney transplant patients with normal renal function.
Montalban C, de Francisco AL, Mariñoso ML, Zubimendi JA, García Unzueta M, Amado JA, Arias M
Kidney Int Suppl 2003 Jun;(85):S129-32. doi: 10.1046/j.1523-1755.63.s85.31.x. PMID: 12753284
Angiotensin II concentrations and gut mucosal perfusion in infants undergoing cardiopulmonary bypass.
Booker PD, Davis AJ, Diver MJ, Whitehead CF
J Cardiothorac Vasc Anesth 1999 Aug;13(4):446-50. doi: 10.1016/s1053-0770(99)90218-5. PMID: 10468259
Pathophysiology of congenital diaphragmatic hernia. XVI: Elevated pulmonary collagen in the lamb model of congenital diaphragmatic hernia.
Hassett MJ, Glick PL, Karamanoukian HL, Rossman JE, Wilcox DT, Azizkhan RG
J Pediatr Surg 1995 Aug;30(8):1191-4. doi: 10.1016/0022-3468(95)90019-5. PMID: 7472980

Clinical prediction guides

Bone disease in long-term adult kidney transplant patients with normal renal function.
Montalban C, de Francisco AL, Mariñoso ML, Zubimendi JA, García Unzueta M, Amado JA, Arias M
Kidney Int Suppl 2003 Jun;(85):S129-32. doi: 10.1046/j.1523-1755.63.s85.31.x. PMID: 12753284
Angiotensin II concentrations and gut mucosal perfusion in infants undergoing cardiopulmonary bypass.
Booker PD, Davis AJ, Diver MJ, Whitehead CF
J Cardiothorac Vasc Anesth 1999 Aug;13(4):446-50. doi: 10.1016/s1053-0770(99)90218-5. PMID: 10468259
Increased collagen content of cerebral microvessels in Alzheimer's disease.
Kalaria RN, Pax AB
Brain Res 1995 Dec 24;705(1-2):349-52. doi: 10.1016/0006-8993(95)01250-8. PMID: 8821769

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