reduced results from

147 billion

123 million

746280

1404

to ~52 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

what is 'serum phytanic acid'? Definition for Serum phytanic acid Serum phytanic acid is also known as: Phytanic acid level, phytanic acid Serum phytanic acid is a medical procedure used for such diagnoses as: retinitis pigmentosa, Refsum's Syndrome and Zellweger's Syndrome. related diagnosis for 'serum phytanic acid' 1 - 3 of 3 diagnosis retinitis pigmentosa genetic vision problems leading to blindness Serum phytanic acid and retinitis pigmentosa Refsum's Syndrome rare genetic condition affecting nervous tissue and skin Serum phytanic acid and Refsum's Syndrome Zellweger's Syndrome inherited condition affecting liver kidney and brain Serum phytanic acid and Zellweger's Syndrome related procedure for 'serum phytanic acid'/associated diagnoses 1 - 5 of 36 procedures EKG Electrocardiogram Serum phytanic acid and EKG Electroretinogram (ERG) Serum phytanic acid and Electroretinogram (ERG) fasting lipid profile Serum phytanic acid and fasting lipid profile cultured skin fibroblasts for biochemical study Serum phytanic acid and cultured skin fibroblasts for biochemical study Brain MRI Serum phytanic acid and Brain MRI Complementation analysis Serum phytanic acid and Complementation analysis Comprehensive eye exam Serum phytanic acid and Comprehensive eye exam DNA mutation analysis Serum phytanic acid and DNA mutation analysis Developmental testing Serum phytanic acid and Developmental testing ECHOcardiogram Serum phytanic acid and ECHOcardiogram Plasma very long chain fatty acids (VLCFA) Serum phytanic acid and Plasma very long chain fatty acids (VLCFA) X-rays Serum phytanic acid and X-rays Antiretinal antibodies antibodies against retinal tissue of eye Serum phytanic acid and Antiretinal antibodies Antitoxoplasma immunoglobulin M antibodies antibody against toxoplasma Serum phytanic acid and Antitoxoplasma immunoglobulin M antibodies Cataract Surgery Serum phytanic acid and Cataract Surgery Dark adaptation Serum phytanic acid and Dark adaptation Dilated fundus examination Serum phytanic acid and Dilated fundus examination Electro-oculogram (EOG) Serum phytanic acid and Electro-oculogram (EOG) Fluorescein angiography Serum phytanic acid and Fluorescein angiography Fluorescent treponemal antibody absorption (FTA-ABS) Serum phytanic acid and Fluorescent treponemal antibody absorption (FTA-ABS) for more please login, login is free (click to login) related medication for 'serum phytanic acid'/associated diagnoses 1 - 5 of 36 drugs acetazolamide Serum phytanic acid and acetazolamide ascorbic acid Serum phytanic acid and ascorbic acid beta-carotene Serum phytanic acid and beta-carotene ciliary neurotrophic factor (cntf) Serum phytanic acid and ciliary neurotrophic factor (cntf) diltiazem Serum phytanic acid and diltiazem docosahexaenoic acid (dha) Serum phytanic acid and docosahexaenoic acid (dha) isotretinoin Serum phytanic acid and isotretinoin lutein Serum phytanic acid and lutein methazolamide Serum phytanic acid and methazolamide sildenafil Serum phytanic acid and sildenafil vitamin a Serum phytanic acid and vitamin a vitamin e Serum phytanic acid and vitamin e zeaxanthin Serum phytanic acid and zeaxanthin for more please login, login is free (click to login) The following are types of physicians relevant for 'Serum phytanic acid'. related types of physicians 'family practitioner, genetics specialist, internist' 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 'serum phytanic acid'? Results 1 - 50 - Serum phytanic acid Phytanic acid: measurement of plasma concentration...[Br J Nutr. 2008 ... PubMed is a service of the U.S. National Library of Medicine that includes over 18 million citations from MEDLINE ... Serum levels of phytanic acid are ... http://www.ncbi.nlm.nih.gov/pubmed/17868488   www.ncbi.nlm.nih.gov - summary Localization of the oxidative defect in phytanic acid degradation in ... Alpha-decarboxylation, an important pathway for degradation of phytanic acid in animals. ... serum-phytanic-acid levels and on clinical manifestations in heredopathia ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=322317   www.pubmedcentral.nih.gov - summary Phytanic acid activates the peroxisome proliferato...[J Biol Chem. 1999 ... PubMed is a service of the U.S. National Library of Medicine that includes over 18 million citations from MEDLINE and ... serum concentrations of phytanic acid ... http://www.ncbi.nlm.nih.gov/pubmed/9915808   www.ncbi.nlm.nih.gov - summary The significance of plasma phytanic acid levels in adults. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long ... determination of the cholesterol bound to the serum alpha- and beta-lipoproteins. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1031939   www.pubmedcentral.nih.gov - summary eMedicine - Refsum Disease : Article Excerpt by Anna Zalewska Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. Patients with RD ... http://www.emedicine.com/derm/byname/refsum-disease.htm   www.emedicine.com - summary eMedicine - Retinitis Pigmentosa : Article by David G Telander Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and ... disease - Serum phytanic acid in the ... http://emedicine.com/oph/topic704.htm   emedicine.com - summary eMedicine - Refsum Disease : Article by Anna Zalewska Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. Patients with RD ... http://www.emedicine.com/derm/topic705.htm   www.emedicine.com - summary List of human blood components - Wikipedia, the free encyclopedia In plasma or serum (g/cm³) Water. Solvent. 0.81-0.86. 0.93-0.95 ... Phytanic acid <3 × 10-6. Platelets (#/cm³): range. 1.4-4.4 × 108. median. 2.5 × 108 ... http://en.wikipedia.org/wiki/List_of_human_blood_components   en.wikipedia.org - summary eMedicine - Diseases of Tetrapyrrole Metabolism: Refsum Disease and the ... ... phytanic acid in serum. Porphyrias - Increased ALA and PBG in the urine and serum ... Monitor serum phytanic acid levels to ensure that levels remain low. ... http://www.emedicine.com/neuro/topic633.htm   www.emedicine.com - summary Midlife diagnosis of Refsum Disease in siblings with Retinitis ... Serum phytanic acid was found to be elevated at 265 ?m/L with pristinate and ... Treatment for RD is aimed at lowering the serum levels of phytanic acid. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2275283   www.pubmedcentral.nih.gov - summary Non-manifesting Refsum heterozygotes carrying the ...[Neurol Sci. 2008 ... PubMed is a service of the U.S. National Library of Medicine that includes over 16 million citations from MEDLINE and ... serum phytanic acid concentration ... http://www.ncbi.nlm.nih.gov/pubmed/18612766?dopt=Abstract   www.ncbi.nlm.nih.gov - summary 132 ... such as phytol, docosahexaenoic acid, and phytanic acid, have begun ... acid is present at higher levels in the serum immediately after infusion as compared to ... http://www2.niddk.nih.gov/NR/rdonlyres/B5AA94C7-E105-423D-9E...   www2.niddk.nih.gov - summary Studies on the Metabolic Error in Refsum's Disease ... serum-phytanic-acid levels and on clinical manifestations in heredopathia ... an important pathway for degradation of phytanic acid in animals. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=297052   www.pubmedcentral.nih.gov - summary eMedicine - Diseases of Tetrapyrrole Metabolism: Refsum Disease and the ... Homozygosity is required for significant phytanic acid build-up. ... "porphobilinogen deaminase") deficiency with high ALA or PBG in urine and serum ... http://www.emedicine.com/neuro/byname/diseases-of-tetrapyrro...   www.emedicine.com - summary Refsum's disease: characterization of the enzyme defect in cell culture Alpha-decarboxylation, an important pathway for degradation of phytanic acid in animals. ... serum-phytanic-acid levels and on clinical manifestations in heredopathia ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=322316   www.pubmedcentral.nih.gov - summary Examples of Peripheral Nervous System-Specific Diseases ... levels of phytanic acid, a long-chain, branched fatty acid derived from the diet. ... Antibodies found in the serum of some diabetic patients with neuropathy are ... http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=bnchm.section.2582   www.ncbi.nlm.nih.gov - summary Intermolecular specificity of pancreatic lipase in the lipolysis of ... ... pancreatic lipase in the lipolysis of triacylglycerols containing phytanic acid. ... A further study of bovine serum lipoproteins and an estimation of their ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1186071   www.pubmedcentral.nih.gov - summary eMedicine - Peroxisomal Disorders : Article by Aziza K Chedrawi Peroxisomal disorders are a group of genetically heterogeneous metabolic ... In Refsum disease, an elevated serum level of phytanic acid is reliable in diagnosis. ... http://www.emedicine.com/NEURO/topic309.htm   www.emedicine.com - summary Annual Report on the Rare Diseases and Conditions Research Activities ... Since a build up in phytanic acid is also seen in the PBD complementation groups ... despite normal calcium serum levels, seizures, tetany, muscular weakness, ... http://rarediseases.info.nih.gov/asp/html/reports/fy1997/NIDDK.html   rarediseases.info.nih.gov - summary Abnormality in catalase import into peroxisomes leads to severe ... Cells were washed with serum-free medium immediately before transfection, ... The function of phytanic acid oxidation was also restored to 80% of the normal ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=19677   www.pubmedcentral.nih.gov - summary Ichthyosis: etiology, diagnosis, and management. [Am J Clin Dermatol ... ... due to accumulation of phytanic acid, results in ichthyosis and progressive ... has been found to be due to an abnormality in a serum protease inhibitor. ... http://www.ncbi.nlm.nih.gov/pubmed/12553849   www.ncbi.nlm.nih.gov - summary Fatty acid distribution in systems modeling the normal and diabetic ... Transfer of oleic acid between albumin and phospholipid vesicles. ... Partition equilibria and serum albumin binding of palmitic and phytanic acids. J Biol Chem. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=295190   www.pubmedcentral.nih.gov - summary eMedicine - Neuropathy of Friedreich Ataxia : Article by N K Nikhar Named after Friedreich from Heidelberg, who reported cases of nonsyphilitic ataxia in the 1860s, Friedreich ataxia ... and phytanic acid: These tests ... http://www.emedicine.com/neuro/topic265.htm   www.emedicine.com - summary Proton/hydroxide conductance and permeability through phospholipid ... ... OH was inhibited by serum albumin (fatty acid-free), phloretin, and low ... conductance through phospholipid bilayer membranes: effects of phytanic acid. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=299093   www.pubmedcentral.nih.gov - summary Peroxisomal bifunctional enzyme deficiency. ... Laudat MH, Saudubray JM, Dulac O, Beucler I, Beaune P. Infantile phytanic acid ... of the major bile acids in serum by isotope dilution-mass spectrometry. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=303746   www.pubmedcentral.nih.gov - summary eMedicine - Sjögren-Larsson Syndrome : Article by William B Rizzo ... derived from metabolism of fatty alcohol, phytanic acid (a branched-chain ... usual metabolic screening tests (eg, serum amino acids, urine organic acids, ... http://www.emedicine.com/ped/topic2111.htm   www.emedicine.com - summary Refsum's disease: a disorder of lipid metabolism. ... serum-phytanic-acid levels and on clinical manifestations in heredopathia ... OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=496071   www.pubmedcentral.nih.gov - summary Identification of a new inborn error in bile acid synthesis: mutation ... ... concentrations of pristanic acid, phytanic acid and C27 bile ... Setchell KD, Matsui A. Serum bile acid analysis. Clin Chim Acta. 1983 Jan 7;127(1):1?17. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=509117   www.pubmedcentral.nih.gov - summary Brain Uptake and Utilization of Fatty Acids: Application to Peroxisomal ... Although data from serum lipid composition suggest that a potential major source ... phytanic acid, since the abnormal accumulation of this substance does not ... http://www.ninds.nih.gov/news_and_events/proceedings/bfaworkshop.htm   www.ninds.nih.gov - summary eMedicine - Ataxia with Identified Genetic and Biochemical Defects ... Elevated (>10 ng/mL) serum alpha-fetoprotein is found in 90-95% of patients. ... Drastic reduction in dietary phytanic acid (supplemented by plasmapheresis) at ... http://www.emedicine.com/neuro/topic556.htm   www.emedicine.com - summary Ataxia with Vitamin E Deficiency -- GeneReviews -- NCBI Bookshelf ... disease, the degradation of phytanic acid is impeded because of ... High serum concentration of phytanic acid differentiates Refsum disease from AVED. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=aved   www.ncbi.nlm.nih.gov - summary Some Analytes Measured in Dried Human Blood on Filter Paper Analyte Phytanic/pristanic acid. Progesterone. Prolactin. Prolidase. Purine nucleoside phosphorylase ... Serum pancreatic lipase. Sissomicin. Somatomedin C. Analyte ... http://www.cdc.gov/labstandards/pdf/nsqap/nsqap_analyte_list.pdf   www.cdc.gov - summary Functional analysis of peroxisome-proliferator-responsive element ... ... medium supplemented with 0.2% serum effective substitute both from ... in vivo levels of phytanic acid, an L-FABP/PPAR? ligand/agonist produced after ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1133936   www.pubmedcentral.nih.gov - summary eMedicine - Disorders of Carbohydrate Metabolism : Article by Pieter R Kark ... the neurological manifestations of phytanic acid storage disease (Refsum disease) ... are accompanied by increased serum lactic acid, frank acidosis is not ... http://www.emedicine.com/neuro/topic679.htm   www.emedicine.com - summary Deafness and Hereditary Hearing Loss Overview -- GeneReviews -- NCBI ... ... and retinitis pigmentosa caused by faulty phytanic acid metabolism. ... diagnosis is established by determining the serum concentration of phytanic acid. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview   www.ncbi.nlm.nih.gov - summary Peroxisomal d-hydroxyacyl-CoA dehydrogenase deficiency: Resolution of ... In addition, plasma pristanic acid was elevated whereas plasma phytanic acid was normal. ... Tetrahydroxy-5?-Cholestan-27-oic Acid) in Serum from the Patient. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=19272   www.pubmedcentral.nih.gov - summary eMedicine - Ichthyosis : Article by Kenneth M Goins Serum angiotensin converting enzyme and lysozyme (ie, sarcoidosis) ... Because rapid weight loss mobilizes tissue phytanic acid, this should be avoided. ... http://www.emedicine.com/oph/topic687.htm   www.emedicine.com - summary Photosensitized killing of cultured fibroblasts from patients with ... ... and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. ... major bile acids in serum by isotope dilution-mass ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=295755   www.pubmedcentral.nih.gov - summary Ataxia with Vitamin E Deficiency In Refsum disease, the degradation of phytanic acid is impeded because of ... High serum concentration of phytanic acid differentiates Refsum disease. from AVED. ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Role of ?-Methylacyl Coenzyme A Racemase in the Degradation of Methyl ... Phytanic acid is derived from chlorophyll-bound phytol and is converted to ... Bio-Rad Laboratories, Tokyo, Japan) with bovine serum albumin as the standard (6) ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=523219   www.pubmedcentral.nih.gov - summary A Dual Function ?-Dioxygenase-Peroxidase and NAD+ Oxidoreductase Active ... ... by degradation of naturally occurring phytanic acid and other ?-methyl-branched ... (232 kD), aldolase (158 kD), and bovine serum albumin (BSA; 67 kD) ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=59111   www.pubmedcentral.nih.gov - summary Deafness and Hereditary Hearing Loss Overview ... caused by faulty phytanic acid metabolism. Although extremely ... serum concentration of phytanic acid. ( See also Peroxisome Biogenesis Disorders, Zellweger ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Production of Wax Esters during Aerobic Growth of Marine Bacteria on ... ... were performed with 125-ml serum flasks containing 70 ml of ? ... Phytanic acid was obtained by hydrogenation of phytenic acids with Pd-CaCO3 as a ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=91006   www.pubmedcentral.nih.gov - summary The Retinoic Acid Receptor-? mediates human T-cell activation and Th2 ... However, as normal serum (similar to the serum utilized in our culture system) ... Phytanic acid is a retinoid X receptor ligand. Eur J Biochem. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...   www.pubmedcentral.nih.gov - summary Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy Reaction tubes were fitted with serum stoppers and plastic center wells (Kontes) ... Peroxisomal phytanic acid ?-oxidation was only mildly affected by the addition ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=151532   www.pubmedcentral.nih.gov - summary Peroxisomal Multifunctional Protein-2 Deficiency Causes Motor Deficits ... ... blocking buffer with normal goat serum (2%), and after washing for 1 ... An additional group was fed with phytanic acid-enriched food (1 mg/g food pellets) ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1606565   www.pubmedcentral.nih.gov - summary Hydrophobicity of Long Chain n-Alkyl Carboxylic Acids, as Measured by ... ... palmitic acid, indicating a limit to the hydrophobicity of ... Partition equilibria and serum albumin binding of palmitic and phytanic acids. J Biol Chem. ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=433241   www.pubmedcentral.nih.gov - summary Retinitis Pigmentosa Overview -- GeneReviews -- NCBI Bookshelf ... and Refsum disease (phytanic acid oxidase deficiency) with neuropathy, ... term use has not been noted [Sibulesky et al 1999], routine monitoring of serum ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rp-overview   www.ncbi.nlm.nih.gov - summary Fatty acids and hypolipidemic drugs regulate peroxisome proliferator ... ... Basal-Medium-Supplement artificial serum, fatty acid free (Biochrom), and then ... Branched-chain phytanic acid, the natural peroxisome proliferator and activator ... http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...   www.pubmedcentral.nih.gov - summary Annual Report on the Rare Diseases and Conditions Research Activities ... Serum samples taken at the time of the exposure accident were analyzed for TCDD. ... Because it is alleged that phytanic acid has its sole origins from the diet, ... http://rarediseases.info.nih.gov/asp/html/reports/fy2000/niehs.html   rarediseases.info.nih.gov - summary show more 1  2

Chat with eNurse Kim about 'Serum phytanic acid' or something else! quick facts related diagnosis category genetic or congenital neurology eye diseases dermatology liver gallbladder and bile ducts