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Elevated urinary glycolic acid level

MedGen UID:
1863530
Concept ID:
C5937209
Finding
HPO: HP:6000431

Definition

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

Term Hierarchy

Conditions with this feature

Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age <12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age =18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement.

Recent clinical studies

Etiology

McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR, Finer S, Lawlor DA, Fauman EB, Huang QQ, Griffiths CJ, MacArthur DG, Trembath RC, Oglesbee D, Lieske JC, Erbe DV, Wright J, van Heel DA
Elife 2020 Mar 24;9 doi: 10.7554/eLife.54363. PMID: 32207686Free PMC Article

Diagnosis

Steuer AE, Bavato F, Schnider LK, Dornbierer DA, Bosch OG, Quednow BB, Seifritz E, Steuer C, Kraemer T
Sci Rep 2023 Jun 2;13(1):8983. doi: 10.1038/s41598-023-36213-1. PMID: 37268859Free PMC Article

Therapy

Steuer AE, Bavato F, Schnider LK, Dornbierer DA, Bosch OG, Quednow BB, Seifritz E, Steuer C, Kraemer T
Sci Rep 2023 Jun 2;13(1):8983. doi: 10.1038/s41598-023-36213-1. PMID: 37268859Free PMC Article
McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR, Finer S, Lawlor DA, Fauman EB, Huang QQ, Griffiths CJ, MacArthur DG, Trembath RC, Oglesbee D, Lieske JC, Erbe DV, Wright J, van Heel DA
Elife 2020 Mar 24;9 doi: 10.7554/eLife.54363. PMID: 32207686Free PMC Article
Hu Y, Zhu X, Zhao R, Wang J, Song Y, Nie G, Tang H, Wang Y
Nanomedicine (Lond) 2018 Apr;13(8):913-928. Epub 2018 Mar 12 doi: 10.2217/nnm-2017-0363. PMID: 29527969

Clinical prediction guides

McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR, Finer S, Lawlor DA, Fauman EB, Huang QQ, Griffiths CJ, MacArthur DG, Trembath RC, Oglesbee D, Lieske JC, Erbe DV, Wright J, van Heel DA
Elife 2020 Mar 24;9 doi: 10.7554/eLife.54363. PMID: 32207686Free PMC Article

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