41. Refsum's Disease Information Diseases Database Refsum s disease,Hereditary sensorimotor neuropathy type 4,Hereditary sensorymotorneuropathy type 4,HSMN type 4,Phytanic acid oxidase deficiency,Phytanic http://www.diseasesdatabase.com/ddb11213.htm

Diseases Database Index Sponsors Contact ... Previous Page Refsum's disease Information Search 7 synonyms or equivalents were found. Refsum's disease aka/or Hereditary sensorimotor neuropathy type 4 aka/or Hereditary sensory-motor neuropathy type 4 aka/or HSMN type 4 aka/or Phytanic acid oxidase deficiency aka/or Phytanic acid storage disease aka/or Phytanoyl-CoA hydroxylase deficiency may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Refsum's disease: Definition(s) via UMLS Code translations and terms via UMLS Refsum's disease: specific sites Send Refsum's disease to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 02:53:03 Metadata Updated 2004-05-22

42. Refsum's Disease Background. Sigvald Refsum first described the disease that bears hisname in 1940 s.Refsum s disease is an autosomal recessive disorder. http://www.thedoctorsdoctor.com/diseases/refsums_disease.htm

Background Sigvald Refsum first described the disease that bears his name in 1940's.Refsum's disease is an autosomal recessive disorder. It is caused by a defect in the metabolism of phytanic acid leading to accumulation of phytanic acid in plasma and tissues. This leads to the clinical features of which include retinitis pigmentosa, blindness, anosmia, deafness, sensory neuropathy, ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues. Patients are deficient activity of phytanoyl-CoA hydroxyl-ase (PhyH), a peroxisomal enzyme catalysing the first step of phytanic acid alpha-oxidation. These enzymes are found in the peroxisome, a cell organelle, only visualized with electron microscopy. OUTLINE Epidemiology Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing Gross Appearance and Clinical Variants ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Hereditary motor sensory neuropathy type IV Heredopathia atactica polyneuritiformis PATHOGENESIS CHARACTERIZATION GENERAL Defect in phytanic acid metabolism Phytanoyl-CoA 2-hydroxylase (PAHX) and 2-hydroxyphytanoyl-CoA lyasen in peroxisomes PAHX, an iron(II) and 2-oxoglutarate-dependent oxygenase is located on chromosome 10p13

43. REFSUM DISEASE Features Listed For REFSUM disease. McKusick 266500. Ataxia; Cataract; Deafness,sensorineural; ECG abnormality/conduction defects; Epiphyseal dysplasia; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1426

44. Refsum Syndrome,Refsum Disease,Phytanic Acid Storage Disease,Hypertrophic Neurop Refsum Syndrome,Refsum disease,Phytanic Acid Storage disease,Hypertrophic Neuropathyof Refsum,Heredopathia Atactica Polyneuritiformis,DOC 11 Phytanic Acid Type http://www.icomm.ca/geneinfo/refsum.htm

Refsum Syndrome,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, rare hereditary ataxia with polyneuritic changes and deafness caused by a defect in the enzyme phytanic acid hydroxylase For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Refsum's Disease also known as: Phytanic Acid Storage Disease Refsum Disease Hypertrophic Neuropathy of Refsum Heredopathia Atactica Polyneuritiformis DOC 11 (Phytanic Acid Type) Disorder of Cornification 11 (Phytanic Acid Type) Rare hereditary ataxia with polyneuritic changes and deafness caused by a defect in the enzyme phytanic acid hydroxylase (as defined by the National Organization for Rare Disorders 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).

45. Leukodystrophy,Refsum's Disease,Cerebrotendinous Xanthomatosis,Metachromatic Leu Leukodystrophy,Refsum s disease,Cerebrotendinous Xanthomatosis,MetachromaticLeukodystrophy,Globoid Leukodystrophy,Krabbe s disease Included,Krabbe s http://www.icomm.ca/geneinfo/leuk.htm

Leukodystrophy,Refsum's Disease,Cerebrotendinous Xanthomatosis,Metachromatic Leukodystrophy,Globoid Leukodystrophy,Krabbe's Disease Included,Krabbe's Leukodystrophy,Adrenoleukodystrophy,Sudanophilic Leukodystrophy Included,Schilder's Disease,Pelizaeus-Merzbacher Brain Sclerosis,Alexanders Disease,Canavan's Disease Included,Canavan's Leukodystrophy For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Leukodystrophy Disorder Subdivisions Canavan's Leukodystrophy (Canavan's Disease, Included) Krabbe's Leukodystrophy (Krabbe's Disease, Included) Metachromic Leukodystrophy Refsum's Disease Adrenoleukodystrophy Cerebrotendinous Xanthomatosis Sudanophilic Leukodystrophy, Included Globoid Leukodystrophy Schilder's Disease Pelizaeus-Merzbacher Brain Sclerosis Alexanders Disease (as defined by the National Organization for Rare Disorders Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing the various types of leukodystrophy.

46. Birth Disorder Information Directory - R HAIR COLOR 2; HCL2. Refsum disease (Hereditary Motor and Sensory Neuropathy, TypeIV; Heredopathia Atactica Polyneuritiformis; Phytanic Acid Oxidase Deficiency) http://www.bdid.com/defectr.htm

HOME R Rachischisis Rachischisis of the Spinal Cord Neural Tube defects - Pediatric Pathology (Includes a Photo) Iniencephaly with Rachischisis - Pediatric Pathology (Includes a Photo) Iniencephaly with Rachischisis and Encephalocele - Pediatric Pathology (Includes a Photo) Radiodigitofacial Dysplasia See Van Goethem Syndrome Radioreno-Ocular Syndrome See Acrorenoocular Syndrome Ramer Ladda Syndrome (Brachydactyly Deafness Skeletal Anomalies) brachydactyly deafness skeletal anomalies Ramon Syndrome (Cherubism Gingival Fibromatosis Mental Retardation) Cherubism gingival fibromatosis mental retardation RAMON SYNDROME Ramos Arroyo Clark Syndrome (Corneal Anesthesia Deafness Mental Retardation) Corneal anesthesia deafness mental retardation Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation Rapp Hodgkin Syndrome (Ectodermal Dysplasia, Anhidrotic, with Cleft Lip and Cleft Palate) ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE Reardon Wilson Cavanagh Syndrome (Ataxia and Deafness, Reardon Type; A taxia- D eafness- R etardation [ ADR ] Syndrome) Ataxia deafness reardon type ATAXIA-DEAFNESS-RETARDATION SYNDROME Also see Red Hair Color Red Hair Color (Hair Color 2) HAIR COLOR 2; HCL2

47. Refsum Disease HOME. Refsum disease (Hereditary Motor and Sensory Neuropathy, Type IV; HeredopathiaAtactica Polyneuritiformis; Phytanic Acid Oxidase Deficiency). http://www.bdid.com/refsum.htm

HOME Refsum Disease (Hereditary Motor and Sensory Neuropathy, Type IV; Heredopathia Atactica Polyneuritiformis; Phytanic Acid Oxidase Deficiency) A personal story of life with Refsum Disease REFSUM'S DISEASE INFORMATION Refsum Disease Infantile Refsum Disease ... Support Group Infantile Form REFSUM DISEASE, INFANTILE FORM Infantile Refsum Disease HOME

48. Refsum Disease Refsum disease. Also See OMIM Online Mendelian Inheritance in Man Refsumdisease information; OMIM Infantile Refsum disease information; http://www.kumc.edu/gec/support/refsum.html

Refsum disease Also See: National organizations with information on genetic conditions or birth defects - variety of resources OMIM: Online Mendelian Inheritance in Man Refsum Disease information OMIM Infantile Refsum Disease information National Organization for Rare Disorders Refsum Syndrome information To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

49. Genetic Conditions / Rare Conditions Information Site conditions; Refsum disease; Retinal degeneration; Retinitis pigmentosa(retinal degenerative diseases, Usher syndrome); Retinoblastoma; http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised January 22, 2004 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

50. Introduction: Refsum Disease - CureResearch.com Introduction to Refsum disease as a medical condition including symptoms,diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://cureresearch.com/r/refsum_disease/intro.htm

IMPORTANT! Use of this site is subject to our and Navigate Home Contents Diseases Search ... Next Search: Condition Lists By Organ By Class By Prevalence By Deaths ... Full List Current chapter: Refsum Disease Next sections Basic Summary for Refsum Disease Prognosis of Refsum Disease Types of Refsum Disease Symptoms of Refsum Disease ... Treatments for Refsum Disease Next chapters: Restless Legs Syndrome Periodic limb movements in sleep Sandhoff Disease Schilder's Disease ... Feedback Introduction: Refsum Disease Refsum Disease: Genetic disease affecting nerve and muscle control. 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). Contents for Refsum Disease: Basic Summary for Refsum Disease Prognosis of Refsum Disease Types of Refsum Disease Symptoms of Refsum Disease ... Treatments for Refsum Disease Footnotes: 1. excerpt from

51. Case 369 --Clinical Chemistry Case Case 369 Refsum s disease. Jansen GA, Wanders RJ, Watkins PA, Mihalik SJ. PhytanoylcoenzymeA hydroxylase deficiency-the enzyme defect in Refsum s disease. http://path.upmc.edu/cases/case369.html

Case 369 Refsum's disease Contributed by by Ahmed Bedeir, MD, Jing Yu, MD, PhD, David Finegold, MD and Mohamed Virji, MD Published on line in November 2003 CLINICAL HISTORY: This female in her 20s with no significant past medical history that presented with presumed anorexia nervosa. She was admitted to the hospital and subsequently required total parenteral nutrition. Physical examination was significant for retinitis pigmentosa on ophthalmoscopic exam as well as shortening of the fourth toe. Her hospital stay was complicated by progressive impairment of vision and hearing loss. Her lab values showed elevated levels of phytanic acid. ETIOLOGY: CLINICAL PICTURE: DIAGNOSIS: Nerve conduction studies are abnormal, with slowing of conduction velocities. CSF protein levels are usually elevated. The electroretinogram may be grossly abnormal. Nerve biopsies from affected patients have shown 'onion bulb' formation, and targetoid inclusions have been described in Schwann cells which have a similar appearance on electron microscopy to those seen in cultured fibroblasts. Plasma levels of phytanic acid measured by gas chromatography-mass spectroscopy are consistently elevated (normal range 800 mmol/l are not uncommon at presentation (8).

52. EPEC - Educating Parents Of Extra-special Children - REFSUM'S DISEASE REFSUM S disease. Together with Cerebrotendinous Xanthomatosis (CTX), Refsum sdisease is at this time, one of the most hopeful leukodystrophies. http://www.epeconline.com/RefsmufsDisease.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. REFSUM'S DISEASE Refsum's Disease is caused by an accumulation of phytanic acid in the tissues and blood due to a genetically determined inability to degrade this substance. The accumulation of phytanic acid causes impaired vision and hearing and peripheral neuropathy, that is, impaired sensation and strength in the distal parts of all extremities. The disorder has an autosomal recessive pattern of inheritance, and its age of onset varies from early childhood to age 50. Symptoms usually appear, however, 20 years of age. Males and females are affected alike. Diagnostic, carrier, and prenatal testing is available. Together with Cerebrotendinous Xanthomatosis (CTX) , Refsum's disease is at this time, one of the most hopeful leukodystrophies. Phytanic acid is not made in the human body but comes exclusively from the diet, and thus restriction of certain foods such as dairy products, tunafish, cod, haddock, lamb, stewed beef, white bread, white rice, boiled potatoes and egg yolk, further progress of the disease can be prevented and some of the symptoms improved. In addition, the supplement Plasmapheresis has been effective in providing a positive initial response. Patients with the infantile form of this phytanic acid storage disorder (

53. Refsum's Disease - General Practice Notebook Refsum s disease. Refsum s disease is a rare autosomal recessive disorder whichpresents as a sensorimotor polyneuropathy during the second decade or later. http://www.gpnotebook.co.uk/cache/1516961814.htm

Refsum's disease Refsum's disease is a rare autosomal recessive disorder which presents as a sensorimotor polyneuropathy during the second decade or later. In this condition lipid metabolism is abnormal. This abnormality results in excessive phytanic acid in fat, the kidneys, the liver and nerves. Characteristic of Refsum's disease is a reduction in plasmalogens (a type of phospholipid) and increased plasma levels of phytanic acid and pipecolic acid. Click here for more information...

54. Refsum Disease At Diseasebooks.com Refsum disease Shop for 5 Refsum disease items available with reviews,descriptions, and more information. 17689 Refsum disease Purchase http://diseasebooks.com/r/Refsum_Disease/

AMAZON.COM Search All Products Electronics Books Classical Music DVD Kitchen Popular Music Software Toys VHS Video Video Games Enter keywords: K-Web Internet Stores Internet Mall Discount Toy Store Nautical Books And Equipment MusicBooks, CD's DVD's ... Exercise Equipment And Gear Medical Sites Raymond E. Cole D.O. Dr.Najeeb Layyous Bookdigger Medical Books Health Supply Store ... Software Store NOTICE : All prices, availability, and specifications are subject to verification by their respective retailers. Privacy Policy info@diseasebooks.com Last Modified : 5-30-2004 Refsum Disease Purchase the most popular and in-stock Refsum Disease and related Disease Books here! Choose from 5 Refsum Disease items available as of 5-30-2004. Get product descriptions, prices, reviews, and more information by clicking on any item. Thank you for shopping at Diseasebooks.com. Disease Books Homocysteine Metabolism: From Basic Science to Clinical Medicine by Ian M. Graham (Editor), et al (Hardcover ) at Amazon Heart and Brain, Brain and Heart by Helge Refsum, et al (Hardcover - July 1989)

55. QJMed -- Wills Et Al. 94 (8): 403 Review. Refsum s disease. View larger version (17K) in this window in a newwindow, Figure 1. The biochemistry of Refsum s disease. Clinical features. http://qjmed.oupjournals.org/cgi/content/full/94/8/403

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: PDF Version of this Article Email this article to a friend Similar articles found in: QJMed Online PubMed PubMed Citation An erratum has been published for this Article This Article has been cited by: other online articles Search PubMed for articles by: Wills, A.J. Reilly, M.M. Alert me when: new articles cite this article Download to Citation Manager Q J Med 2001; Association of Physicians Review Refsum's disease A.J. Wills N.J. Manning and M.M. Reilly From the Neurology Department, University Hospital Nottingham, Nottingham, Department of Chemical Pathology and Neonatal Screening, The Children's Hospital, Sheffield, and Department of Clinical Neurology, The National Hospital for Neurology and Neurosurgery, London, UK Introduction Top Introduction Biochemistry Clinical features Diagnosis Genetics Treatment Conclusion References Refsum's disease (hereditary motor and sensory neuropathy type IV) is a rare autosomal recessive condition first characterized by Sigvald Refsum in 1945. He initially chose the name heredoataxia

56. Refsum Disease Refsum s disease. infantile Refsum s disease is one of the mild phenotype of theperoxisome biogenesis disorders that have 12 complementation groups. Etiology. http://www.humpath.com/article.php3?id_article=884

57. Infantile Refsum Disease Homepage Visit Random Contact Ring Owner. Submit a site to InfantileRefsum disease, Site Title Site Owner EMail Address Site URL http://www.ringsurf.com/?action=addform&ring=infantilerefsumdisease

58. EMedicine - Refsum Disease : Article Excerpt By: Anastazy Omulecki, MD, PhD Refsum disease Refsum disease (RD) is a neurocutaneous syndrome that is characterizedbiochemically by the accumulation of phytanic acid in plasma and tissues http://www.emedicine.com/derm/byname/refsum-disease.htm

(advertisement) Excerpt from Refsum Disease Synonyms, Key Words, and Related Terms: heredopathia atactica polyneuritiformis, RD, neurocutaneous syndromes, peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, ichthyosis Please click here to view the full topic text: Refsum Disease Background: Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. Patients with RD are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation. Refsum first described this disease in 1946. Peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, and ichthyosis are the major clinical components. The symptoms evolve slowly and insidiously from childhood through adolescence and early adulthood. Pathophysiology: RD is a recessive disorder characterized by defective peroxisomal alpha-oxidation of phytanic acid. Consequently, this unusual, exogenous C20-branched-chain (3,7,11,15-tetramethylhexadecanoic acid) fatty acid accumulates in blood and tissues. It is almost exclusively of exogenous origin and is delivered mainly from dietary plant chlorophyll and, to a lesser extent, from animal sources. Blood levels of phytanic acid are increased in patients with RD. These levels are 10-50 mg/dL, whereas normal values are less than or equal to 0.2 mg/dL, and account for 5-30% of serum lipids.

59. EMedicine - Diseases Of Tetrapyrrole Metabolism: Refsum Disease And The Hepatic diseases of Tetrapyrrole Metabolism Refsum disease and the Hepatic Porphyrias Refsum disease (RD) and the hepatic porphyrias are rare inherited http://www.emedicine.com/neuro/byname/diseases-of-tetrapyrrole-metabolism--refsu

(advertisement) Excerpt from Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias Synonyms, Key Words, and Related Terms: phytanic acid storage, porphyria Please click here to view the full topic text: Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias Background: Refsum disease (RD) and the hepatic porphyrias are rare inherited neurodegenerative conditions with exacerbations and remissions due to abnormal metabolism of large tetrapyrrole molecules. Two common examples of large tetrapyrrole molecules are chlorophyll a, the photosynthetic pigment of green plants, and heme, the prosthetic group of hemoglobin (see Picture 1 ). Side groups on both species involve relatively small organic groups (methyl, vinyl, and free propionyl); 1 major exception is phytol, a large hydrocarbon alcoholic substituent on chlorophyll. Patients in both disease categories must avoid foods and drugs that lead to high levels of the relevant biological toxin, which can trigger or perpetuate an exacerbation. Pathophysiology: The neurotoxin in RD is phytanic acid, which in affected individuals is stored in neural and visceral parenchyma because of a deficiency in phytanic acid alpha-hydroxylase. The source of phytanic acid is either direct absorption or conversion of absorbed phytol from ruminant fat in meat or milk (only ruminants can release phytol from chlorophyll during digestion). Homozygosity is required for significant phytanic acid build-up.

60. Refsum Disease - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionaryAZ List Refsum disease. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=5276

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