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Elevated urine propionic acid level

MedGen UID:
1053322
•Concept ID:
CN377028
•
Finding
HPO: HP:6000432

Definition

The amount of propionic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urine propionic acid level

Recent clinical studies

Etiology

Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.
Ruppert T, Schumann A, Gröne HJ, Okun JG, Kölker S, Morath MA, Sauer SW
Hum Mol Genet 2015 Dec 15;24(24):7049-59. Epub 2015 Sep 29 doi: 10.1093/hmg/ddv405. PMID: 26420839
Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells.
Karkashon S, Raghupathy R, Bhatia H, Dutta A, Hess S, Higgs J, Tifft CJ, Little JA
Blood Cells Mol Dis 2015 Aug;55(2):161-7. Epub 2015 May 27 doi: 10.1016/j.bcmd.2015.05.006. PMID: 26142333
Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.
Bergman AJ, Van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, Poll-The BT
Pediatr Res 1996 Sep;40(3):404-9. doi: 10.1203/00006450-199609000-00007. PMID: 8865276

Diagnosis

A Rare Case of Propionic Acidemia in a Six Months Female Child.
Irum S, Rehman A, Aamir M, Haroon ZH, Chaudhry N, Bibi A
J Coll Physicians Surg Pak 2022 Aug;32(8):S180-S182. doi: 10.29271/jcpsp.2022.Supp2.S180. PMID: 36210688
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, Brassier A, Habarou F, Delahodde A, Correia I, Ottolenghi C, de Lonlay P
Mitochondrion 2014 Mar;15:59-64. Epub 2014 Jan 22 doi: 10.1016/j.mito.2014.01.003. PMID: 24462778
Nitration of gamma-tocopherol prevents its oxidative metabolism by HepG2 cells.
Wu JH, Hodgson JM, Ward NC, Clarke MW, Puddey IB, Croft KD
Free Radic Biol Med 2005 Aug 15;39(4):483-94. doi: 10.1016/j.freeradbiomed.2005.04.001. PMID: 16043020
Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.
Bergman AJ, Van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, Poll-The BT
Pediatr Res 1996 Sep;40(3):404-9. doi: 10.1203/00006450-199609000-00007. PMID: 8865276
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
Ampola MG, Mahoney MJ, Nakamura E, Tanaka K
N Engl J Med 1975 Aug 14;293(7):313-7. doi: 10.1056/NEJM197508142930701. PMID: 239344

Therapy

Dietary sodium and inhibition of neutral endopeptidase 24.11 in essential hypertension.
Singer DR, Markandu ND, Buckley MG, Miller MA, Sagnella GA, MacGregor GA
Hypertension 1991 Dec;18(6):798-804. doi: 10.1161/01.hyp.18.6.798. PMID: 1835959
Inhibition of the metabolism of atrial natriuretic factor causes diuresis and natriuresis in chronic heart failure.
Northridge DB, Jardine AG, Findlay IN, Archibald M, Dilly SG, Dargie HJ
Am J Hypertens 1990 Sep;3(9):682-7. doi: 10.1093/ajh/3.9.682. PMID: 2145874
The atriopeptidase inhibitor UK 69,578 increases atrial natriuretic factor and causes a natriuresis in normal humans.
Jardine AG, Connell JM, Northridge D, Dilly SG, Cussans NJ, Davidson G, Doyle J, Leckie BL, Lever AF
Am J Hypertens 1990 Sep;3(9):661-7. doi: 10.1093/ajh/3.9.661. PMID: 2145871
Hypertriglyceridemia and hyperuricemia: effects of two fibric acid derivatives (bezafibrate and fenofibrate) in a double-blind, placebo-controlled trial.
Bastow MD, Durrington PN, Ishola M
Metabolism 1988 Mar;37(3):217-20. doi: 10.1016/0026-0495(88)90098-4. PMID: 3278190
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
Ampola MG, Mahoney MJ, Nakamura E, Tanaka K
N Engl J Med 1975 Aug 14;293(7):313-7. doi: 10.1056/NEJM197508142930701. PMID: 239344

Prognosis

Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.
Bergman AJ, Van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, Poll-The BT
Pediatr Res 1996 Sep;40(3):404-9. doi: 10.1203/00006450-199609000-00007. PMID: 8865276

Clinical prediction guides

Nitration of gamma-tocopherol prevents its oxidative metabolism by HepG2 cells.
Wu JH, Hodgson JM, Ward NC, Clarke MW, Puddey IB, Croft KD
Free Radic Biol Med 2005 Aug 15;39(4):483-94. doi: 10.1016/j.freeradbiomed.2005.04.001. PMID: 16043020

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