Phytanic Acid

A 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency.

Also Known As:

Networked: 227 relevant articles (4 outcomes, 18 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Wanders, Ronald J A: 10 articles (09/2011 - 02/2003)
2.	Reiser, Georg: 8 articles (08/2011 - 10/2004)
3.	Wierzbicki, Anthony S: 8 articles (11/2010 - 03/2002)
4.	Wanders, R J A: 8 articles (12/2007 - 07/2004)
5.	Lloyd, Matthew D: 6 articles (03/2008 - 03/2002)
6.	Schönfeld, Peter: 6 articles (07/2006 - 01/2004)
7.	Wajner, Moacir: 5 articles (06/2013 - 08/2010)
8.	Kahlert, Stefan: 5 articles (11/2009 - 10/2004)
9.	Komen, J C: 5 articles (12/2007 - 07/2004)
10.	Jansen, Gerbert A: 5 articles (05/2004 - 02/2003)

Related Diseases

1.	Refsum Disease (Refsum's Disease) 01/01/1986 - "However, a few patients with proven Refsum's disease have eliminated their phytanic acid stores by dietary means. " 04/01/1998 - "This study explored the effects of plasma phytanic acid on SLC kinetics in nine Caucasian patients with Refsum's disease and in age- and sex-matched Caucasian control subjects. " 09/01/1995 - "These studies suggest that the alpha-hydroxylation step of phytanic acid oxidation, which has been shown to be defective in Refsum disease, is located in peroxisomes." 01/01/1987 - "The 17 patients with Refsum's disease in the present study had serum phytanic acid values differing from 73 to less than 0.5 mg/dl (normal). " 02/01/1971 - "Studies in patients with the Refsum syndrome show that accumulation of phytanic acid stems from a metabolic error in the pathway for its oxidative degradation. "
2.	Zellweger Syndrome (Zellweger's Syndrome) 06/30/1987 - "Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome." 12/01/1986 - "Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid." 09/24/2015 - "Phytanic acid (Phyt) accumulates in various peroxisomal diseases including Refsum disease (RD) and Zellweger syndrome (ZS). " 05/01/1989 - "3. Analysis of phytanic acid showed that in patients with multiple impairments of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy) phytanic acid levels may be increased not only in serum, but also in the tissue (e.g. " 06/01/2000 - "Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome."
3.	Polyneuropathies (Polyneuropathy) 03/15/2008 - "Screening for causes of polyneuropathy at age 40 y revealed markedly elevated serum phytanic acid (PA) with a maximum value of 293.6 microg/ml (n:<6 microg/ml) why RD was diagnosed. " 11/01/2010 - "A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. " 11/01/2006 - "Thus, when GBS is suspected, particularly in cases of familial recurrence as well as in atypical cases of acute polyneuropathy, the diagnosis of Refsum's disease should be considered, looking for other features of the disease and, if appropriate, testing plasma phytanic acid levels." 08/01/2005 - "A diet low in phytanic acid leads to an amelioration of polyneuropathy and ataxia and slows or even stops the other manifestations. " 01/01/2012 - "Poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths and internal organs, leading to retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, and renal, cardiac or liver impairment. "
4.	Ataxia (Dyssynergia) 01/01/1996 - "Treatment with a low-phytanic acid diet arrested the progression of the ataxia and led to a slight improvement." 11/01/2010 - "A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. " 11/18/2008 - "Our results show that, in the mouse, high phytanic acid levels cause a peripheral neuropathy and ataxia with loss of Purkinje cells. " 08/01/2005 - "A diet low in phytanic acid leads to an amelioration of polyneuropathy and ataxia and slows or even stops the other manifestations. " 07/01/1991 - "In all patients a reduction in calorie intake and body weight had been associated with a rise in plasma phytanic acid, followed by an exacerbation of the ataxia and neuropathy. "
5.	Peroxisomal Disorders (Peroxisomal Disorder) 10/24/1997 - "Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts." 10/15/1990 - "Complementation studies, using fused cell lines from patients with peroxisomal disorders, have shown correction of defective plasmalogen synthesis and phytanic acid oxidation as well as an increase in the number of peroxisomes. " 11/01/2007 - "Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review." 10/01/1998 - "The alpha-oxidation of phytanic acid and the beta-oxidation of pristanitc acid were investigated in cultured fibroblasts from controls and patients affected with different peroxisomal disorders using deuterated substrates. " 05/01/1996 - "Up till now, errors of phytanic acid metabolism in children with peroxisomal disorders have been estimated by measuring 14CO2 formation from 1-14C-labelled phytanic acid in different systems. "

Related Drugs and Biologics

1.	Ethyl Ether (Ether)
2.	Protons (Proton)
3.	Acetyl-CoA C-Acyltransferase (beta Ketothiolase)
4.	pristanic acid
5.	Phytol
6.	Oxidoreductases
7.	2-hydroxyphytanic acid
8.	Biological Markers (Surrogate Marker)
9.	Retinaldehyde (Retinal)
10.	Lipoproteins (Lipoprotein)

Related Therapies and Procedures

1.	Plasmapheresis
2.	Blood Component Removal (Apheresis)