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Refsums Disease:     more books (15)

The Official Parent's Sourcebook on Infantile Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18 The Official Parent's Sourcebook on Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-12 Alpha-Adrenoceptor Blockers in Cardiovascular Disease by Helge Refsum, 1985-06 Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005 Infantile refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005 Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Bryan, PhD Cobb, 2005 Biochemical and dietary studies in Refsum's disease (Heredopathia atactica polyneuritiformis) by Kenneth Try, 1969 Heredopathia Atactica Polyneuritiformis: A Familial Syndrome not hitherto described. A Contribution to the Clinical Study of the Hereditary Diseases of the Nervous System by Sigvald Refsum, 1946-01-01 COLLABORATIVE STUDY OF EPIDEMIOLOGICAL FACTORS IN CEREBROVASCULAR DISEASE : CODING GUIDE by Ludo (van), with A.B. Baker, G. Mottura, C. Poser, S. Refsum and E. Rutishauser Bogaert, 1959 Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01 Lipidoses: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Altha Edgren, 2006 Homocysteine Metabolism: From Basic Science to Clinical Medicine Peripheral Neuropathies: International Conference Proceedings (International congress series) Myocardial Ischemia and Protection

lists with details

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

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
    
    Extractions: 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

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
    
    Extractions: 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 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
    
    Extractions: 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 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
    
    Extractions: HOME Rachischisis Radiodigitofacial Dysplasia Radioreno-Ocular Syndrome Ramer Ladda Syndrome (Brachydactyly Deafness Skeletal Anomalies) Ramon Syndrome (Cherubism Gingival Fibromatosis Mental Retardation) Ramos Arroyo Clark Syndrome (Corneal Anesthesia Deafness Mental Retardation) Rapp Hodgkin Syndrome (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) 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

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

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/
    
    Extractions: 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
    
    Extractions: 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).

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
    
    Extractions: 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
    
    Extractions: needs and parents with special needs children. 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
    
    Extractions: 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.

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/

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
    
    Extractions: Association of Physicians 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

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
    
    Extractions: (advertisement) Synonyms, Key Words, and Related Terms: heredopathia atactica polyneuritiformis, RD, neurocutaneous syndromes, peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, ichthyosis 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
    
    Extractions: (advertisement) Synonyms, Key Words, and Related Terms: phytanic acid storage, porphyria 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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