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Abnormal phytanic acid:pristanic acid ratio

MedGen UID:
1841775
•Concept ID:
C5826401
•
Finding
Synonyms: Abnormal phytanic acid to pristanic acid ratio; Abnormal phytanic acid/pristanic acid ratio
 
HPO: HP:0034448

Definition

Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration. [from HPO]

Recent clinical studies

Etiology

Biochemical markers predicting survival in peroxisome biogenesis disorders.
Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ
Neurology 2002 Dec 10;59(11):1746-9. doi: 10.1212/01.wnl.0000036609.14203.70. PMID: 12473763
Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.
Paton BC, Sharp PC, Crane DI, Poulos A
J Clin Invest 1996 Feb 1;97(3):681-8. doi: 10.1172/JCI118465. PMID: 8609223Free PMC Article

Diagnosis

Very-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry.
Scott AI
Methods Mol Biol 2022;2546:501-508. doi: 10.1007/978-1-0716-2565-1_45. PMID: 36127617
Biochemical markers predicting survival in peroxisome biogenesis disorders.
Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ
Neurology 2002 Dec 10;59(11):1746-9. doi: 10.1212/01.wnl.0000036609.14203.70. PMID: 12473763
Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.
Paton BC, Sharp PC, Crane DI, Poulos A
J Clin Invest 1996 Feb 1;97(3):681-8. doi: 10.1172/JCI118465. PMID: 8609223Free PMC Article
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.
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

Prognosis

Biochemical markers predicting survival in peroxisome biogenesis disorders.
Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ
Neurology 2002 Dec 10;59(11):1746-9. doi: 10.1212/01.wnl.0000036609.14203.70. PMID: 12473763

Clinical prediction guides

Biochemical markers predicting survival in peroxisome biogenesis disorders.
Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ
Neurology 2002 Dec 10;59(11):1746-9. doi: 10.1212/01.wnl.0000036609.14203.70. PMID: 12473763

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