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Increased phytanic acid:pristanic acid ratio

MedGen UID:
1841789
Concept ID:
C5826402
Finding
Synonym: Phytanic acid to pristanic acid ratio high
 
HPO: HP:0034449

Definition

An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration. [from HPO]

Conditions with this feature

Alpha-methylacyl-CoA racemase deficiency
MedGen UID:
482058
Concept ID:
C3280428
Disease or Syndrome
AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).

Professional guidelines

PubMed

ten Brink HJ, van den Heuvel CM, Christensen E, Largillière C, Jakobs C
Clin Chem 1993 Sep;39(9):1904-6. PMID: 8375069

Recent clinical studies

Etiology

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH
Cancer Med 2014 Dec;3(6):1562-9. Epub 2014 Aug 16 doi: 10.1002/cam4.319. PMID: 25132681Free PMC Article
Klein CJ, Havranek TG, Revenis ME, Hassanali Z, Scavo LM
Nutr Clin Pract 2013 Feb;28(1):87-94. doi: 10.1177/0884533612469989. PMID: 23319354

Diagnosis

ten Brink HJ, van den Heuvel CM, Christensen E, Largillière C, Jakobs C
Clin Chem 1993 Sep;39(9):1904-6. PMID: 8375069
ten Brink HJ, Stellaard F, van den Heuvel CM, Kok RM, Schor DS, Wanders RJ, Jakobs C
J Lipid Res 1992 Jan;33(1):41-7. PMID: 1372637

Therapy

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH
Cancer Med 2014 Dec;3(6):1562-9. Epub 2014 Aug 16 doi: 10.1002/cam4.319. PMID: 25132681Free PMC Article
Klein CJ, Havranek TG, Revenis ME, Hassanali Z, Scavo LM
Nutr Clin Pract 2013 Feb;28(1):87-94. doi: 10.1177/0884533612469989. PMID: 23319354

Clinical prediction guides

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH
Cancer Med 2014 Dec;3(6):1562-9. Epub 2014 Aug 16 doi: 10.1002/cam4.319. PMID: 25132681Free PMC Article
Klein CJ, Havranek TG, Revenis ME, Hassanali Z, Scavo LM
Nutr Clin Pract 2013 Feb;28(1):87-94. doi: 10.1177/0884533612469989. PMID: 23319354

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