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
Extractions: 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.
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
Extractions: 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 Zellwegerâs syndrome to designate all generalized peroxisomal disorders. In the opposite extreme, more often doctors tend to diagnose all peroxisomal patients with infantile Refsumâs 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 patientâs diagnosis is confused with Refsumâs disease, an altogether different disorder of the adult. Refsumâs 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 Zellwegerâs 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.
Infantile Refsum Disease Infantile Refsum disease. INFANTILE REFSUM disease, AND. RHIZOMELIC CHONDRODYSPLASIAPUNCTATA. Welcome to the Infantile Refsum disease website. http://home.pacifier.com/~mstephe/
Extractions: 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.
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
Extractions: Subscribe now >> 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 dietdairy 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.
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
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
Extractions: 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.
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
Extractions: Feedback A B C D ... Z 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 ...
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
Extractions: 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.
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
Extractions: 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.
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&
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&
Extractions: Patient/Family Resources by Topic: Metabolic Disorders Refsum Disease Patient/Family Resources Miscellaneous See also: United Leukodystrophy Foundation: Homepage Miscellaneous Refsum Disease Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases
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
Extractions: Clinical Resources by Topic: Metabolic Disorders Refsum Disease Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies:
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
Extractions: 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. 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.
