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Elevated urinary adipic acid

MedGen UID:
1056880
•Concept ID:
CN378788
•
Finding
HPO: HP:6001114

Definition

The amount of adipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Adipic acid is an alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary adipic acid

Recent clinical studies

Etiology

Dicarboxylic Acid Excretion in Normal Formula-Fed and Breastfed Infants.
Anderson M, Eliot K, Kelly P, Shoemaker J
Nutr Clin Pract 2016 Dec;31(6):819-823. Epub 2016 Jul 9 doi: 10.1177/0884533616648330. PMID: 27153855
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
Ferrer-López I, Ruiz-Sala P, Merinero B, Pérez-Cerdá C, Ugarte M
J Chromatogr B Analyt Technol Biomed Life Sci 2014 Jan 1;944:141-3. Epub 2013 Nov 15 doi: 10.1016/j.jchromb.2013.10.032. PMID: 24316525
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA
J Inherit Metab Dis 2012 Nov;35(6):1031-6. Epub 2012 Mar 9 doi: 10.1007/s10545-012-9466-1. PMID: 22403017
Defects of fatty-acid oxidation in muscle.
Angelini C
Baillieres Clin Endocrinol Metab 1990 Sep;4(3):561-82. doi: 10.1016/s0950-351x(05)80068-0. PMID: 2268228
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Wilson GN, de Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI
Am J Med Genet 1989 Mar;32(3):395-401. doi: 10.1002/ajmg.1320320326. PMID: 2658591

Diagnosis

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
Khalil Y, Footitt E, Vootukuri R, Wempe MF, Coughlin CR 2nd, Batzios S, Wilson MP, Kožich V, Clayton PT, Mills PB
J Inherit Metab Dis 2025 Jan;48(1):e12783. Epub 2024 Jul 22 doi: 10.1002/jimd.12783. PMID: 39038845Free PMC Article
Dicarboxylic Acid Excretion in Normal Formula-Fed and Breastfed Infants.
Anderson M, Eliot K, Kelly P, Shoemaker J
Nutr Clin Pract 2016 Dec;31(6):819-823. Epub 2016 Jul 9 doi: 10.1177/0884533616648330. PMID: 27153855
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B
Pediatrics 2012 Dec;130(6):e1716-9. Epub 2012 Nov 12 doi: 10.1542/peds.2012-1094. PMID: 23147983
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA
J Inherit Metab Dis 2012 Nov;35(6):1031-6. Epub 2012 Mar 9 doi: 10.1007/s10545-012-9466-1. PMID: 22403017
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Wilson GN, de Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI
Am J Med Genet 1989 Mar;32(3):395-401. doi: 10.1002/ajmg.1320320326. PMID: 2658591

Therapy

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
Khalil Y, Footitt E, Vootukuri R, Wempe MF, Coughlin CR 2nd, Batzios S, Wilson MP, Kožich V, Clayton PT, Mills PB
J Inherit Metab Dis 2025 Jan;48(1):e12783. Epub 2024 Jul 22 doi: 10.1002/jimd.12783. PMID: 39038845Free PMC Article
Consumption of Whey in Combination with Dairy Medium-Chain Fatty Acids (MCFAs) may Reduce Lipid Storage due to Urinary Loss of Tricarboxylic Acid Cycle Intermediates and Increased Rates of MCFAs Oxidation.
Amer B, Clausen MR, Bertram HC, Bohl M, Nebel C, Zheng H, Skov T, Larsen MK, Gregersen S, Hermansen K, Dalsgaard TK
Mol Nutr Food Res 2017 Dec;61(12) Epub 2017 Nov 3 doi: 10.1002/mnfr.201601048. PMID: 28949074
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B
Pediatrics 2012 Dec;130(6):e1716-9. Epub 2012 Nov 12 doi: 10.1542/peds.2012-1094. PMID: 23147983
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB
Pediatrics 2012 May;129(5):e1368-72. Epub 2012 Apr 23 doi: 10.1542/peds.2011-0123. PMID: 22529283
Changes in cortisol metabolism following rifampicin therapy.
Edwards OM, Courtenay-Evans RJ, Galley JM, Hunter J, Tait AD
Lancet 1974 Sep 7;2(7880):548-51. PMID: 4140269

Prognosis

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB
Pediatrics 2012 May;129(5):e1368-72. Epub 2012 Apr 23 doi: 10.1542/peds.2011-0123. PMID: 22529283

Clinical prediction guides

Consumption of Whey in Combination with Dairy Medium-Chain Fatty Acids (MCFAs) may Reduce Lipid Storage due to Urinary Loss of Tricarboxylic Acid Cycle Intermediates and Increased Rates of MCFAs Oxidation.
Amer B, Clausen MR, Bertram HC, Bohl M, Nebel C, Zheng H, Skov T, Larsen MK, Gregersen S, Hermansen K, Dalsgaard TK
Mol Nutr Food Res 2017 Dec;61(12) Epub 2017 Nov 3 doi: 10.1002/mnfr.201601048. PMID: 28949074
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Wilson GN, de Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI
Am J Med Genet 1989 Mar;32(3):395-401. doi: 10.1002/ajmg.1320320326. PMID: 2658591
Urinary organic acid profiles of Reye's syndrome patients.
Harrington W, Liu AS, Lonsdale D, Igou D
Clin Chim Acta 1977 Feb 1;74(3):247-54. doi: 10.1016/0009-8981(77)90291-1. PMID: 832426

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