21. PillSupplier.com - Conditions And Diseases/Nutrition And Metabolism Disorders/Ch refsums disease rate it review it Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes. Search. http://www.pillsupplier.com/dir/609/

Category: Refsum's HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Nutrition and Metabolism Disorders/Cholesterol and Other Fats/Refsum's Links: Refsum Disease [rate it] [review it] The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease [rate it] [review it] Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsum Disease [rate it] [review it] A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Refsum's Diet [rate it] [review it] Very in depth discussion about the foods and diet of some one whom has refsum's disease. Refsums Disease [rate it] [review it] Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:41:15 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

22. DermIS / Main Menu / DOIA / Refsum Syndrome / Info Heredopathia Atactica, Refsum Thiebaut disease, Refsum Disease, Refsum syndrome,refsums disease, Refsum s Disease, Refsums Syndrome, Refsum s Syndrome http://www.dermis.net/doia/diagnose.asp?zugr=d&lang=e&diagnr=757106&topic=i

23. Wauu.DE: Health: Conditions And Diseases: Nutrition And Metabolism Disorders: Ch http//www.alphalink.com.au/~dijon/index3.htm. refsums disease Two articles aboutthis disease, clinical description, inheritance, treatment and related http://www.wauu.de/Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disor

Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Refsum's Search DMOZ-Verzeichnis: All Categories Categories Onlye Links: Refsum Disease The clinical and biochemical presentation of this disease, the causes and treatment are discussed. http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsumtext.html Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done. http://www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. http://www.alphalink.com.au/~dijon/index1.htm Refsum's Diet Very in depth discussion about the foods and diet of some one whom has refsum's disease. http://www.alphalink.com.au/~dijon/index3.htm Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. http://www.srpf.a.se/forsk/refsum.html © 1998- 2002 Ein Service von Wauu.de

24. Alexa Web Search - Subjects > Health > ... > Nutrition And Metabolism Disorders Site Info. refsums disease Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes. http://www.alexa.com/browse/general?catid=434084&mode=general

25. Svenska RP-föreningen: Refsums Sjukdom INFORMATION ABOUT REFSUM disease. Refsum disease is an extremely rare and complexdisorder that affects many parts of the body. 2. REFSUM S disease. http://www.srpf.a.se/forsk/refsum.html

Svenska RP-föreningen 1. A clinical description of Refsum Syndrome. by Tom Hoglund, Science Information Manager, Foundation Fighting Blindness publiced RPLIST Fri, 15 Jan 1999. INFORMATION ABOUT REFSUM DISEASE Refsum disease is an extremely rare and complex disorder that affects many parts of the body. A form of the retinal degenerative disease known as retinitis pigmentosa (RP) is a common feature of this disease. CLINICAL DESCRIPTION Individuals with Refsum disease are unable to metabolize phytanic acid. As a result, high levels of phytanic acid accumulate in blood and tissue. It is thought that disorders associated with this disease result from harmful levels of phytanic acid. Phytanic acid is found in meat, fish, and dairy products. The body also converts phytol, a substance found in green leafy vegetables, to phytanic acid. Refsum disease is usually diagnosed during childhood or young adulthood when vision problems due to RP become apparent. Progressive vision loss from RP begins when harmful levels of phytanic acid collect beneath the retina. The retina is essential to vision as it converts light into electrical impulses and then transfers these impulses to the brain via the optic nerve. The first symptom of RP is night blindness followed by a gradual loss of peripheral (side) vision. Night blindness makes vision difficult in dark or dimly lit places. The loss of peripheral vision is often referred to as tunnel vision. RP tends to progress slowly in patients with Refsum disease.

26. Infantile Refsum's Disease - Manuela Martinez Foundation patients with neonatal adrenoleukodystrophy (NALD), a peroxisomal disorder of intermediateseverity and often undistinguished from infantile Refsum s disease. http://www.martinezfoundation.org/index.cfm/fuseaction/Basics.Refsums

English Espa±ol Peroxisomal Disorders Zellweger's Syndrome ... References Infantile Refsum’s disease: A misnamed peroxisomal disorder It must be noted that there is much confusion in the way peroxisomal disorders are named. Many doctors use the name Zellweger’s syndrome to designate all generalized peroxisomal disorders. In the opposite extreme, more often doctors tend to diagnose all peroxisomal patients with infantile Refsum’s disease (IRD), the less severe clinical form or phenotype. In the middle, there are patients with neonatal adrenoleukodystrophy (NALD), a peroxisomal disorder of intermediate severity and often undistinguished from infantile Refsum's disease. Quite often, even the word infantile is deleted and the patient’s diagnosis is confused with Refsum’s disease, an altogether different disorder of the adult. Refsum’s disease is not a generalized peroxisomal disorder but an isolated enzyme defect. This is a confusion that should be avoided since it generates misunderstanding among doctors and parents. For the moment, it has not been found any clear correlation between the gene defect ( genotype ) and the phenotype . So while we do not have a better genetic base to distinguish the different clinical pictures, it is better to simply call them classic Zellweger’s syndrome (the most severe disease) and generalized peroxisomal disorders, without distinction between NALD and IRD. Indeed, some misnamed IRD patients who survive the first years of life will later develop signs characteristic of NALD, such as adrenal insufficiency and demyelination.

27. Infantile Refsum Disease Infantile Refsum disease. INFANTILE REFSUM disease, AND. RHIZOMELIC CHONDRODYSPLASIAPUNCTATA. Welcome to the Infantile Refsum disease website. http://home.pacifier.com/~mstephe/

Infantile Refsum Disease PEROXISOME BIOGENESIS DISORDERS: ZELLWEGER SYNDROME, NEONATAL ADRENOLEUKODYSTROPHY, INFANTILE REFSUM DISEASE, AND RHIZOMELIC CHONDRODYSPLASIA PUNCTATA Welcome to the Infantile Refsum Disease website. We, John Harris and Mary Stephens, are the parents of a wonderful little boy named Ian who is diagnosed with infantile Refsum disease (IRD). Ian was born in March of 1993. We live in Vancouver, Washington, USA, a small city just north of Portland, Oregon. The pages that follow are meant to be a source of information and support to parents and caregivers of children diagnosed with Peroxisome Biogenesis Disorders (PBDs, sometimes also called Peroxisome Assembly Disorders). We have no medical advice. A peroxisome is small compartment ("organelle") within a cell where particular chemical reactions take place, a sort of isolation chamber in which certain types of substances are taken in and processed. Biogenesis refers to the genetic steps involved in the correct formation of these organelles. There are currently - in humans - a dozen or so different genes known to be necessary for this to occur, and mutations of any of them can can cause either complete failure, or the incorrect formation, of peroxisomes. Without correctly formed and functioning peroxisomes, a number of important chemical processes within the cell do not occur as they should, leading to a group of severe and often fatal diseases, the PBDs. There are four PBDs - Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD) and rhizomelic chondrodysplasia punctata (RCDP). The first three are really a single spectrum of disease, genetically and chemically almost indistinguishable; and particular diagnosis is as much as anything based on the degree of severity of the child's condition. ZS is the most severe form, IRD the least, with NALD in the middle. These three diseases are known as the Zellweger spectrum, and affected children share a common set of abnormalities and disabilities. There is a great deal of clinical overlap between them, with no hard and fast lines.

28. Refsum Disease Refsum disease is one of a group of genetic disorders called the leukodystrophiesthat affect growth of the myelin sheath on nerve fibers in the brain. http://healthlink.mcw.edu/article/921960794.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Refsum Disease Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Refsum disease is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues. (Phytanic acid is not made in the human body; it comes from the diet—dairy products, beef, lamb, and some seafood). Symptoms of the disorder may include vision impairments (retinitis pigmentosa), peripheral neuropathy, ataxia (impaired muscle coordination), impaired hearing, and bone and skin changes. Nystagmus (rapid, involuntary to-and-fro eye movements), anosmia (absence of the sense of smell), and ichthyosis (a skin disorder causing dry, rough, scaly skin) may also occur. Onset of Refsum disease varies from early childhood to age 50, however, symptoms usually appear by age 20. The disorder affects both males and females. Treatment for Refsum disease includes restricting foods that contain phytanic acid. Plasmapheresis (the removal and reinfusion of blood plasma) may also be required.

29. OMIM - REFSUM DISEASE http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266500

30. Entrez PubMed Refsum disease is caused by mutations in the phytanoylCoA hydroxylasegene. Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

31. Introduction: Infantile Refsum Disease - WrongDiagnosis.com Introduction to Infantile Refsum disease as a medical condition including symptoms,diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/i/infantile_refsum_disease/intro.htm

Diseases IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Infantile Refsum Disease Next sections Basic Summary for Infantile Refsum Disease Prognosis of Infantile Refsum Disease Symptoms of Infantile Refsum Disease Treatments for Infantile Refsum Disease Next chapters: Infantile Spasms Joubert Syndrome Krabbé Disease Landau-Kleffner Syndrome ... Feedback Introduction: Infantile Refsum Disease Infantile Refsum Disease: Genetic disease affecting nerve and muscle control. Infantile Refsum Disease: Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Contents for Infantile Refsum Disease: Basic Summary for Infantile Refsum Disease Prognosis of Infantile Refsum Disease Symptoms of Infantile Refsum Disease Treatments for Infantile Refsum Disease Footnotes: 1. excerpt from

32. List Of Diseases: R - WrongDiagnosis.com see Refractive Eye Disorders; Refractive Eye Disorders; Refsum disease; Refsumdisease (Infantile) see Infantile Refsum disease; Regional enteritis http://www.wrongdiagnosis.com/lists/condsr.htm

IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Disease and Condition Lists Next sections List of Diseases: S List of Diseases: T List of Diseases: U List of Diseases: V ... List of Diseases: W Next chapters: Disease Statistics Category Lists Administrative Pages Medical Dictionary ... Feedback List of Diseases: R A B C D ... Z R R117H mutation cystic fibrosis ... type of Cystic Fibrosis RA ... see Rheumatoid arthritis Rabies Radiation sickness Radiculopathy ... type of Neuropathy Radon ... see Radon poisoning Radon poisoning Ragweed allergies ... type of Hay fever Ramsay Hunt syndrome Ramsay Hunt Syndrome Type 1 ... see Herpes zoster oticus Ramsay Hunt Syndrome Type 2 Ramsay Hunt Syndrome Type I ... see Herpes zoster oticus Ramsay Hunt Syndrome Type II ... see Ramsay Hunt Syndrome Type 2 Random Mutations ... see Sporadic Genetic Diseases Rapid gastric emptying Rapid heart ...

33. Untitled Document Refsum disease. Clinical presentation. The three diagnostics of Refsum disease areretinitis pigmentosa, peripheral polyneuropathy, and cerebellar ataxia. http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsumtext.html

Refsum Disease Clinical presentation The three diagnostics of Refsum disease are retinitis pigmentosa, peripheral polyneuropathy, and cerebellar ataxia. Infants seem generally normal at birth, but the disorder usually presents itself before age 20, although some patients have been described with an onset as late as 50. The initial presentation is usually a physical unsteadiness and/or failing vision. Refsum disease is progressive, although the deterioration can be interrupted by periods of remission. Biochemical presentation Refsum disease is associated with high levels of phytanic acid (shown below). Normally, phytanic acid levels are essentially undetectable in the plasma. However, patients with Refsum disease have extremely high levels of this compound in their plasma, such that phytanate accounts for 5-30% of total fatty acids. The phytanic acid is thought to come mostly from exogenous sources, including dietary phytanic acid and dietary phytol. Molecular basis of disease Refsum disease is caused by a deficiency in phytanoyl-CoA hydroxylase (please see a- oxidation page for details on this pathway) ( Jansen et al.

34. Refsum Disease http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsum.html

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35. Refsum Syndrome disorder subdivision(s) covered by this report. Synonyms Refsum disease;Phytanic Acid Storage disease; Hypertrophic Neuropathy of Refsum; http://my.webmd.com/hw/raising_a_family/nord348.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Refsum Syndrome Important It is possible that the main title of the report Refsum Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Refsum Disease Phytanic Acid Storage Disease Hypertrophic Neuropathy of Refsum Heredopathia Atactica Polyneuritiformis DOC 11 (Phytanic Acid Type) Disorder of Cornification 11 (Phytanic Acid Type) Disorder Subdivisions None General Discussion Refsum Syndrome is a rare disorder of lipid metabolism inherited as a recessive trait. Symptoms may include a degenerative nerve disease (peripheral neuropathy), failure of muscle coordination (ataxia), retinitis pigmentosa (a progressive vision disorder), and bone and skin changes. This disorder is believed to be due to the absence of phytanic acid hydroxylase in the blood, an enzyme needed for the metabolism of phytanic acid (found in dairy products, beef, lamb and some seafoods). Refsum Syndrome is characterized by a marked accumulation of phytanic acid in the plasma and tissues. Prolonged treatment with a diet deficient in phytanic acid can be beneficial. This slowly progressive disorder is most common in children and young adults of Scandinavian heritage. Phytanic Acid is a derivative of phytol, a component of chlorophyll.

36. Refsum Disease Refsum disease (also called Phytanic Acid Storage disease or HeredopathiaAtactica Polyneuritiformis). What is Refsum disease? Refsum http://www.clevelandclinic.org/health/health-info/docs/1300/1332.asp?index=6091&

37. Infantile Refsum Disease Infantile Refsum disease. What is Infantile Refsum disease? There is nocure or standard course of treatment for infantile Refsum disease. http://www.clevelandclinic.org/health/health-info/docs/1300/1329.asp?index=6094&

38. CCHS Clinical Digital Library Refsum disease Patient/Family Resources. Miscellaneous. Refsum diseaseAccess document. Miscellaneous Refsum disease Patient/Family Resources http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/peroxisomal/refsum.htm

Patient/Family Resources by Topic: Metabolic Disorders Refsum Disease Patient/Family Resources Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Refsum Disease Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Refsum Disease: Access document United Leukodystrophy Foundation: Homepage Introductions to the Leukodystrophies: Access document Refsum Disease: Access document Miscellaneous Refsum Disease Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Leukodystrophy: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

39. CCHS Clinical Digital Library Refsum disease Clinical Resources. Dermatology (eMedicine) Table of contentsRefsum disease Access document. Neurology (eMedicine) Table of contents http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/peroxisomal/refsum.htm

Clinical Resources by Topic: Metabolic Disorders Refsum Disease Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Refsum Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 379: Charcot-Marie-Tooth Disease and Other Inherited Neuropathies Table of contents Other Inherited Neuropathies: Access document Refsum Disease: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 3 - Mood, Emotion, and Thought: Access document History and Definitions: Access document Clinical History: Access document Anatomy of Mood, Emotion, and Thought: Access document Examination of Mood, Emotion, and Thought: Access document Evaluation Guidelines: Access document Clinical Syndromes: Access document General Management Goals: Access document Reviews and Selected Updates: Access document References: Access document Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies:

40. Refsum's Disease (www.whonamedit.com) Refsum s disease A rare disorder characterized by phytanic acid accumulationin the blood and tissues. Also Refsum s disease Also http://www.whonamedit.com/synd.cfm/3304.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Refsum's disease Also known as: Refsum's syndrome Refsum-Thiébaut disease Refsum-Thiébaut syndrome Refsum-Thiébaut-Klenk-Kahlke disease Synonyms: Ataxia hereditaria hemeralopia polyneuritiformis, hemeralopia heredotaxia polyneuritiformis, hereditary motor sensory neuropathy, type IV, heredopathia atactica poluneuritiformis, phytanic acid storage syndrome. Associated persons: W. Kahlke E. Klenk Sigvald Bernhard Refsum M. F. Thiébaut Description: This rare disorder was the first example of an inherited disorder in fatty acid oxidation. It is characterized by phytanic acid accumulation in the blood and tissues. The symptoms consist of night blindness (the earliest symptom), progressive nerve deafness, atypical retinitis pigmentosa, progressive concentric constriction of visual fields, lenticular opacity, peripheral polyneuropathy, absent or diminished deep tendon reflexes, cerebellar ataxia, loss of sense of smell, unsteady gait, loss of position sense, intention tremor, nystagmus, heart disease with ECG changes, ichtyosis, hyeprkeratosis palmaris et plantaris, epiphyseal dysplasia, syndactyly, hammer toe, pes cavus, urinary sphincter impairment, and osteochondritis.

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