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what is 'plasma phytanic acid'? Definition for Plasma phytanic acid Plasma phytanic acid is also known as: serum phytanic acid Plasma phytanic acid is a medical procedure used for such diagnoses as: chondrodysplasia punctata. related diagnosis for 'plasma phytanic acid' 1 - 1 of 1 diagnosis chondrodysplasia punctata genetic disease with abnormal calcification of bones Plasma phytanic acid and chondrodysplasia punctata related procedure for 'plasma phytanic acid'/associated diagnoses 1 - 5 of 24 procedures X-rays Plasma phytanic acid and X-rays 24 hour urinary acid mucopolysaccharides Plasma phytanic acid and 24 hour urinary acid mucopolysaccharides Chest X-ray Radiological technique to image the chest Plasma phytanic acid and Chest X-ray DNA mutation analysis Plasma phytanic acid and DNA mutation analysis Hearing test standard technique of representing hearing loss Plasma phytanic acid and Hearing test Lysosomal enzymes Plasma phytanic acid and Lysosomal enzymes Molecular Genetic Studies Plasma phytanic acid and Molecular Genetic Studies Plasma very long chain fatty acids (VLCFA) Plasma phytanic acid and Plasma very long chain fatty acids (VLCFA) Prenatal Ultrasound Ultrasound on the fetus before birth Plasma phytanic acid and Prenatal Ultrasound Red blood cell plasmalogens Plasma phytanic acid and Red blood cell plasmalogens Serum Alkaline Phosphatase (ALP) Plasma phytanic acid and Serum Alkaline Phosphatase (ALP) Speech Therapy Plasma phytanic acid and Speech Therapy Urine spot tests for mucopolysaccharides (GAG) Plasma phytanic acid and Urine spot tests for mucopolysaccharides (GAG) X-ray foot (feet) Plasma phytanic acid and X-ray foot (feet) X-ray hand(s) Plasma phytanic acid and X-ray hand(s) X-ray pelvis Plasma phytanic acid and X-ray pelvis X-ray skull Plasma phytanic acid and X-ray skull X-ray spine Plasma phytanic acid and X-ray spine cultured fibroblasts for phytanic acid (PA) oxidation Plasma phytanic acid and cultured fibroblasts for phytanic acid (PA) oxidation cultured fibroblasts for plasmalogens Plasma phytanic acid and cultured fibroblasts for plasmalogens for more please login, login is free (click to login) related medication for 'plasma phytanic acid'/associated diagnoses 1 - 5 of 24 drugs The following are types of physicians relevant for 'Plasma phytanic acid'. related types of physicians 'family practitioner, genetics specialist, internist, metabolic specialist' show local physicians postal code Find Local stars represent relevance to topic not rating more The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested. web search results for 'plasma phytanic acid'? Results 1 - 50 - Plasma phytanic acid Phytanic Acid - PubChem Public Chemical Database PubChem Compound Summary ... In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as ... to a phytanic acid alpha-hydroxylase deficiency. ... http://pubchem.ncbi.nlm.nih.gov/summary/summary.cgi?sid=408060   pubchem.ncbi.nlm.nih.gov - summary Transport of phytanic acid on lipoproteins in Refsum disease. Plasma phytanic acid was distributed on VLDL (16.2% +/- 12.2%), IDL (1.77 ... the import-export balance for phytanic acid in plasma is related to forward and ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/10070615   www.be-md.ncbi.nlm.nih.gov - summary Patterns of Refsum's disease. Phytanic acid oxidase deficiency. A consistently raised plasma phytanic acid value, generally considered to be ... G; Poulos, A. The quantitation of plasma phytanic acid by mass fragmentography. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1628542   www.pubmedcentral.nih.gov - summary Phytanic acid: measurement of plasma concentrations by gas-liquid ... Phytanic acid: measurement of plasma concentrations by gas-liquid chromatography ... The strongest determinant of plasma phytanic acid concentration appeared to be ... http://www.ncbi.nlm.nih.gov/pubmed/17868488   www.ncbi.nlm.nih.gov - summary The significance of plasma phytanic acid levels in adults. The presence of phytanic acid in tissues and plasma has been considered ... a raised plasma phytanic acid may represent a group of patients with a disease ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1031939   www.pubmedcentral.nih.gov - summary Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha ... ... ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues. ... Other atypical cases with low-plasma phytanic acid may be caused by alpha ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/11948235   www.be-md.ncbi.nlm.nih.gov - summary Pristanic acid and phytanic acid: naturally occurring ligands for the ... ... micromolar concentrations in the plasma of healthy individuals. ... Besides PPARalpha, phytanic acid also trans-activates all three retinoic X ... http://www.ncbi.nlm.nih.gov/pubmed/11060349?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Localization of the oxidative defect in phytanic acid degradation in ... ... plasma free fatty acid radioactivity after intravenous injection of phytanic ... from phytanic acid-U-14C into the major lipid ester classes of plasma was ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=322317   www.pubmedcentral.nih.gov - summary Metabolism of phytanic acid and 3-methyl-adipic acid excretion in ... Plasma PA doubled every 29 h, while 3-MAA excretion followed second-order kinetics. ... Phytanic Acid/therapeutic use. Refsum Disease/blood. Refsum Disease ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/12700346   www.be-md.ncbi.nlm.nih.gov - summary A new peroxisomal disease with impaired phytanic and pipecolic acid ... Phytanic acid (PA) accumulates in patients with adult Refsum disease (ARD) and ... moderately increased in plasma, whereas phytanic oxidation was severely ... http://www.ncbi.nlm.nih.gov/pubmed/8413964   www.ncbi.nlm.nih.gov - summary Refsum's disease - Wikipedia, the free encyclopedia ... of phytanic acid and its unsaturated fatty acid derivatives in the plasma and tissues. ... "Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica ... http://en.wikipedia.org/wiki/Refsum's_disease   en.wikipedia.org - summary Infantile Refsum Disease Information Page: National Institute of ... As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. ... may also require plasma exchange (plasmapheresis) in which ... http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm   www.ninds.nih.gov - summary Pristanic acid - Wikipedia, the free encyclopedia ... at micromolar concentrations in the blood plasma of healthy individuals. ... It is usually present in combination with phytanic acid. ... http://en.wikipedia.org/wiki/Pristanic_acid   en.wikipedia.org - summary Refsum Disease established by measurement of plasma phytanic acid concentration, which is greater than 200 ... treatment to reduce plasma phytanic acid concentration before ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Plasma exchange in the treatment of Refsum's disease (heredopathia ... Lowering the plasma phytanic acid by plasma exchange produced a ... The significance of plasma phytanic acid levels in adults. J Neurol Neurosurg Psychiatry. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1014432   www.pubmedcentral.nih.gov - summary Refsum disease Refsum disease is characterized by an accumulation of phytanic acid in the plasma and tissues. ... bodies can not synthesize phytanic acid: we have to obtain ... http://www.ncbi.nlm.nih.gov/disease/Refsum.html   www.ncbi.nlm.nih.gov - summary Refsum's syndrome - Wikipedia, the free encyclopedia ... to be caused by the accumulation of a branched fatty acid (phytanic ... Plasma filtering to remove some of the dissolved phytanic acid from the blood is ... http://en.wikipedia.org/wiki/Refsum's_syndrome   en.wikipedia.org - summary Studies on the Metabolic Error in Refsum's Disease Labeled phytanic acid was demonstrated in the plasma of both control subjects ... This labeled phytanic acid had disappeared almost completely from the plasma of the ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=297052   www.pubmedcentral.nih.gov - summary Plasma exchange in the treatment of Refsum's disease (heredopathia ... ... rise in plasma phytanic acid, followed by an exacerbation ... Lowering the plasma phytanic acid by plasma exchange produced a rapid clinical improvement. ... http://www.ncbi.nlm.nih.gov/pubmed/1716665   www.ncbi.nlm.nih.gov - summary Refsum disease: the presentation and ophthalmic aspects of Refsum ... By limiting dietary intake, plasma phytanic acid levels fall with an improvement ... Substances: Phytanic Acid. PMID: 1282471 [PubMed - indexed for MEDLINE] ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/1282471   www.be-md.ncbi.nlm.nih.gov - summary Peroxisomal bifunctional enzyme deficiency. ... and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. ... of pipecolic acid in urine and plasma by isotope dilution ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=303746   www.pubmedcentral.nih.gov - summary Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ... Measurement of plasma very-long-chain fatty acid (VLCFA) levels is the most ... Phytanic acid and pristanic acid 2. Plasma concentration ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pbd   www.ncbi.nlm.nih.gov - summary Identification of PEX7 as the Second Gene Involved in Refsum Disease Initial plasma phytanic acid levels in the three individuals were 400 ?M, 1,950 ... Phytanic acid levels were measured in plasma and adipose tissue biopsy specimens ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379239   www.pubmedcentral.nih.gov - summary Heredopathia atactica polyneuritiformis (refsum's disease) treated by ... ... polyneuritiformis (refsum's disease) treated by diet and plasma-exchange. ... of the disease has been shown to depend not only on a diet low in phytanic acid, ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/85164   www.be-md.ncbi.nlm.nih.gov - summary Rhizomelic Chondrodysplasia Punctata Type 1 phytanic acid, and plasma concentration of very long chain fatty acids (VLCFA), which has ... with normal plasma phytanic acid: clinico-biochemical delineation ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Measurement of plasma very-long-chain fatty acid (VLCFA) levels is the ... Plasma concentration. Increased concentrations of phytanic. acid and/or pristanic acid ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Neonatal adrenoleukodystrophy. Increased plasma levels of very long chain fatty acids (8/8), phytanic acid (7/8) ... very long chain fatty acids and phytanic acid in the plasma. J Neurol Sci. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1028652   www.pubmedcentral.nih.gov - summary Heredopathia atactica polyneuritiformis: Refsum's disease. ... come on slowly and are not directly related to the plasma phytanic acid level; ... Phytanic Acid/administration & dosage. Phytanic Acid/blood. Plasma Exchange ... http://www.ncbi.nlm.nih.gov/pubmed/2413704   www.ncbi.nlm.nih.gov - summary Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X ... ... of the branched-chain fatty acids pristanic acid and phytanic acid ... mo of the diet, the phytanic acid levels in plasma were within the normal range ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1474093   www.pubmedcentral.nih.gov - summary Peroxisomal d-hydroxyacyl-CoA dehydrogenase deficiency: Resolution of ... ... bile acids, phytanic acid, and pristanic acid were measured in plasma by using ... plasma pristanic acid was elevated whereas plasma phytanic acid was ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=19272   www.pubmedcentral.nih.gov - summary A child with Refsum's disease: successful treatment with diet and ... ... multiple plasma exchanges and dietary restriction of phytanic acid intake has ... Low phytanic acid intake is being achieved by restriction of total fat to 10 to ... http://www.ncbi.nlm.nih.gov/pubmed/2465931   www.ncbi.nlm.nih.gov - summary Oxidation of pristanic acid in fibroblasts and its application to the ... Phytanic acid alpha-oxidation and complementation analysis of classical Refsum ... RB, Jakobs C. Pristanic acid and phytanic acid in plasma from patients with a ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=507104   www.pubmedcentral.nih.gov - summary Peroxisomal bifunctional enzyme deficiency. ... long chain fatty acid levels were elevated in both plasma and fibroblasts, and ... phytanic acid and L-pipecolic acid levels were normal, as was plasmalogen ... http://www.ncbi.nlm.nih.gov/pubmed/2921319   www.ncbi.nlm.nih.gov - summary Atypical refsum disease with pipecolic acidemia and abnormal catalase ... Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the ... Phytanic Acid. Mixed Function Oxygenases. PHYH protein, human ... http://www.be-md.ncbi.nlm.nih.gov/pubmed/10632109   www.be-md.ncbi.nlm.nih.gov - summary Human phytanoyl-CoA hydroxylase: resolution of the gene structure and ... ... characterized by the accumulation of phytanic acid in plasma and tissues. ... with RD are unable to degrade phytanic acid due to a deficient activity of ... http://www.ncbi.nlm.nih.gov/pubmed/10767344   www.ncbi.nlm.nih.gov - summary Distinction between peroxisomal bifunctional enzyme and acyl-CoA ... ... VLCFA beta-oxidation, decreased fibroblast phytanic acid oxidation, normal plasmalogen synthesis, normal plasma L-pipecolic acid level, and normal ... http://www.ncbi.nlm.nih.gov/pubmed/7668838   www.ncbi.nlm.nih.gov - summary Refsum Disease - Yahoo! Health Important It is possible that the main title of the report Refsum Disease is not ... of a particular fatty acid (phytanic acid) in blood plasma and tissues. ... http://health.yahoo.com/other-other/refsum-disease/healthwise--nord348.html   health.yahoo.com - summary Peroxisomal Disorders: Inherited Disorders of Metabolism: Merck Manual ... ... (plasma levels of phytanic, pristanic, and pipecolic acids; RBC ... Treatment is dietary restriction of phytanic acid (< 10 mg/day), which can be ... http://www.merck.com/mmpe/sec19/ch296/ch296h.html   www.merck.com - summary Characterization of carnitine and fatty acid metabolism in the long ... In agreement with previous results in plasma and bile, we found accumulation of ... catabolism of phytanic acid, but LCAD is also able to handle straight-chain and ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1134946   www.pubmedcentral.nih.gov - summary Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease. Toxic phytanic acid concentrations in patients with Refsum's disease can be reduced by plasma separation, performed either as plasmapheresis, or as cascade ... http://www.ncbi.nlm.nih.gov/pubmed/8899052   www.ncbi.nlm.nih.gov - summary Inherited peroxisomal disorders involving the nervous system. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long ... Age-related accumulation of phytanic acid in plasma from patients with the ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1779067   www.pubmedcentral.nih.gov - summary Phytol metabolites are circulating dietary factors that activate the ... Phytanic acid, another phytol metabolite, was synthesized and stimulated RXR ... of 3,7,11,15-tetramethylhexadecanoic acid (phytanic acid) from ox-plasma lipids. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=275969   www.pubmedcentral.nih.gov - summary Refsum Disease Important It is possible that the main title of the report Refsum Disease is not ... of a particular fatty acid (phytanic acid) in blood plasma and tissues. ... http://children.webmd.com/refsum-disease   children.webmd.com - summary REFSUM DISEASE - Pedbase.org also called Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis ... frequently moniter plasma phytanate levels. 3. Medical ... http://pedbase.org/r/refsum-disease/   pedbase.org - summary Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1 ... Plasma was isolated and used for analysis of VLCFA and l-pipecolic acid, as ... All three patients had normal phytanic acid oxidation, which is diminished in BD ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=419992   www.pubmedcentral.nih.gov - summary Rational diagnostic strategy for Zellweger syndrome spectrum patients. Zellweger syndrome spectrum (ZSS) comprises a clinically and genetically ... acids, pristanic acid and phytanic acid in plasma and serum and reduced levels ... http://www.ncbi.nlm.nih.gov/pubmed/19142205?ordinalpos=27&it...   www.ncbi.nlm.nih.gov - summary List of human blood components - Wikipedia, the free encyclopedia Amino acid. 2.7-5.5 ×10-5. 2.4-7.6 ×10-5. Albumin. Blood plasma protein. 3.5-5.2 ×10-2 ... Phytanic acid <3 × 10-6. Platelets (#/cm³): range. 1.4-4.4 × 108 ... http://en.wikipedia.org/wiki/List_of_human_blood_components   en.wikipedia.org - summary Chondrodysplasia punctata with a mild clinical course. We report a 7-year-old patient with chondrodysplasia punctata but without rhizomelia. ... Plasma phytanic acid concentration was elevated 5-fold. ... http://www.ncbi.nlm.nih.gov/pubmed/7914249?dopt=Abstract   www.ncbi.nlm.nih.gov - summary Rare Diseases and Related Terms Phytanic acid oxidase deficiency. PIBIDS syndrome. Picardi-Lassueur-Little syndrome ... Plasma cell leukemia. Plasma thromboplastin antecedent deficiency ... http://rarediseases.info.nih.gov/RareDiseaseList.aspx?StartsWith=P   rarediseases.info.nih.gov - summary Adrenoleukodystrophy: heterogeneity in two brothers. Journal List > J Neurol Neurosurg Psychiatry > v.52(3); Mar ... increased levels of very long chain fatty acids and phytanic acid in the plasma. J Neurol Sci. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1032401   www.pubmedcentral.nih.gov - summary show more 1  2

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