Adult Refsum disease may be divided into the adult Refsum disease 1 and adult Refsum disease 2 subtypes. The former stems from ... Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting from ... Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells ... It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991). Refsum disease typically ...

... is less severe than Zellweger syndrome. Infantile Refsum disease is a developmental brain disorder. In ... as is adult Refsum disease, but they are different disorders that should not be confused. Infantile Refsum disease is one of ... Infantile Refsum disease can also affect the function of many other organ systems. Patients can show craniofacial abnormalities ... Infantile Refsum disease is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins ...

Refsum disease is named after him. Cohen, M M; Didaver, D (1992). "The man behind the syndrome: Sigvald Refsum". Journal of the ... Sigvald Refsum studied medicine at University of Oslo and obtained his doctorate in 1946. He taught in University of Bergen ... Sigvald Bernhard Refsum (8 May 1907, Gransherad - 8 July 1991, Oslo) was a Norwegian neurologist and university teacher. ... "Sigvald Bernhard Refsum". Store norske leksikon (in Norwegian). Retrieved 9 December 2017. Larsen, Øivind. "Sigvald Bernhard ...

Wanders RJ, Waterham HR, Leroy BP (2006-03-20). "Adult Refsum Disease". Refsum Disease. PMID 20301527. Retrieved 2009-03-16. {{ ... The symptoms are similar to those of adult Refsum disease and usually appear in the late teens or early twenties. The first ... Both decreased and increased levels of the enzyme in humans are linked with diseases. Reduction of the protein level or ... although it is quite different from other peroxisomal disorders and does not share classic Refsum disorder symptoms. The ...

Refsum disease (also known as adult Refsum disease) is an autosomal recessive disorder that results in the accumulation of ... Thus, patients with Refsum disease should limit their intake of phytanic acid and free phytol. The amount of free phytol in ... Komen, J.C.; Wanders, R.J.A. (2007). "Peroxisomes, Refsum's disease and the α- and ω-oxidation of phytanic acid". Biochemical ... "Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge ...

PHYH deficiency results in the accumulation of large tissue stores of phytanic acid and is the major cause of Refsum disease. ... Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ (Oct 1997). "Identification of PAHX, a Refsum disease gene ... GeneReviews/NCBI/NIH/UW entry on Refsum Disease Portal: Biology (Articles with short description, Short description matches ... "Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene". Nature Genetics. 17 (2): 190-3. doi:10.1038/ ...

Differential diagnosis includes Begger syndrome and Refsum disease. Most people with this condition die when they reach their ... "ADan amyloidosis - About the Disease". rarediseases.info.nih.gov. Retrieved 22 July 2023. Paul, Robert H. (2007-11-17). ... ISBN 978-1-59454-046-2. "Dementia, familial Danish , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... ISBN 978-1-4160-5009-4. Pantoni, Leonardo; Gorelick, Philip B. (May 2014). Cerebral Small Vessel Disease. Cambridge University ...

Other conditions include neurosyphilis, toxoplasmosis and Refsum's disease. Acquired conditions resulting in ophthalmoscopic ... "Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns". Human Molecular Genetics. 11 (10 ... The progression of disease occurs in both eyes in a similar but not identical pattern. A variety of indirect symptoms ... At least 35 different genes or loci are known to cause "nonsyndromic RP" (RP that is not the result of another disease or part ...

doi:10.1111/j.1365-277x.1993.tb00375.x. Steinberg, D. Phytanic acid storage disease (Refsum's disease). In: Metabolic Basis of ... Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the PHYH gene, have ... Komen, J. C.; Komen, R. J. A. (2007). "Peroxisomes, Refsum's disease and the α- and ω-oxidation of phytanic acid". Biochemical ... foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease". ...

Diseases associated with ADI1 include Klebsiella, and refsum disease. ADI1 is capable for supporting hepatitis C virus ...

... and infantile Refsum disease (IRD). Although all have a similar molecular basis for disease, Zellweger syndrome is the most ... Zellweger-Syndrome at NINDS Zellweger syndrome at NIH's Office of Rare Diseases Steinberg SJ, Raymond GV, Braverman NE, et al ... 31 August 2010). "Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial". Neurology ...

Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias at eMedicine Narang, Neatu; Banerjee, A; Kotwal ... Mejía-Rivera O (8 June 2012). "Las enfermedades de Jean-Jacques Rousseau" [The diseases of Jean-Jacques Rousseau]. Revista ... Seizures often accompany this disease. Most seizure medications exacerbate this condition due to their induction of cytochrome ... Due to the rarity of this disease it is difficult to estimate the prevalence of AIP and the inclusion criteria differs widely ...

... is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1. Peroxin GeneReviews/ ... NCBI/NIH/UW entry on Refsum Disease GeneReviews/NIH/NCBI/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1 PEX7+protein,+ ...

Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in ...

Norwegian painter Refsum disease This page lists people with the surname Refsum. If an internal link intending to refer to a ... Refsum is a surname. Notable people with the surname include: Helge Refsum (1897-1976), Norwegian jurist and politician Maja ... Refsum (1897-1986), Norwegian sculptor and teacher Marie Borge Refsum (born 1927), Norwegian politician Sigvald Bernhard Refsum ... 1907-1991), Norwegian neurologist Thomas Refsum (1878-1957), Norwegian sport shooter Tor Hermod Refsum (1894-1981), ...

PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger ... World Health Organization (7 December 1997). Application of the international classification of diseases to neurology: ICD-NA. ...

The subdivisions of this spectrum are hyperpipecolic acidemia, infantile Refsum disease, neonatal adrenoleukodystrophy, and ... Due to the lack of muscle tone, infants can face respiratory problems as the disease progresses.[citation needed] Zellweger ... Zellweger spectrum disorders are a group of rare disorders that create the same disease process. ... "Zellweger Spectrum Disorder". National Organization of Rare Diseases. Retrieved 20 February 2018. "Zellweger Syndrome". ...

Rarer diseases concerning a disorder of the lipid metabolism are sitosterolemia, Wolman's disease, Refsum's disease, and ... Gaucher's disease (types I, II, and III), Niemann-Pick disease, Tay-Sachs disease, and Fabry's disease are all diseases where ... Harris JR (2009). Cholesterol binding and cholesterol transport proteins: structure and function in health and disease. ... and triglycerides which most commonly lead to cardiovascular diseases. A good deal of the time these disorders are hereditary, ...

Chambraud B, Radanyi C, Camonis JH, Rajkowski K, Schumacher M, Baulieu EE (March 1999). "Immunophilins, Refsum disease, and ... This may prove significant for the development of new Alzheimer's drugs and for detecting the disease before the onset of ... and Alzheimer's disease". Journal of Neurochemistry. 133 (1): 1-13. doi:10.1111/jnc.13033. PMC 4361273. PMID 25628064. ...

1999). "Immunophilins, Refsum disease, and lupus nephritis: The peroxisomal enzyme phytanoyl-COA α-hydroxylase is a new FKBP- ...

... infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of ... and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630-5 ... Molecular Basis of Disease. 1822 (9): 1430-41. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920. Braverman NE, Raymond GV, Rizzo ...

... infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of ... infantile Refsum disease, and Zellweger syndrome. PEX1 has been shown to interact with PEX6 and PEX26. Mutations in the genes ... and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630- ... and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630- ...

Refsum H, Ueland PM, Nygård O, Vollset SE (1998). "Homocysteine and cardiovascular disease". Annual Review of Medicine. 49: 31- ... High levels of homocysteine are linked to cardiovascular disease and atherosclerosis, particularly coronary artery disease. ... Robinson, Killian H. (2001). "Homocysteine and coronary artery disease". In Carmel, Ralph; Jacobsen, Ralph Carmel (eds.). ... has been linked to non-alcoholic fatty liver disease. This substitution has also been linked to increased frequency of non- ...

Refsum H, Ueland PM, Nygård O, Vollset SE (1998). "Homocysteine and cardiovascular disease". Annual Review of Medicine. 49 (1 ... Several studies showed that methionine restriction also inhibits aging-related disease processes in mice and inhibits colon ... The degradation of methionine is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria ( ... 2009). "Codrugs linking L-dopa and sulfur-containing antioxidants: new pharmacological tools against Parkinson's disease". ...

... disease Canavan disease Krabbe disease Metachromatic leukodystrophy Pelizaeus-Merzbacher disease Phenylketonuria Refsum disease ... Transverse myelitis Multiple sclerosis Charcot-Marie-Tooth disease Arachnoiditis Lorenzo's oil "Our Advisors". The Myelin ...

... which in conjunction with Refsum disease has been causing his symptoms. House later marries Dominika in his apartment, with the ...

A number of the symptoms overlapped with several known neurological diseases such as Werner syndrome, Refsum syndrome, and ... The disease is characterized by early-onset dementia, ataxia, muscle wasting, skin atrophy, and eye abnormalities. In addition ... The current findings suggest that the cause of the disease could be narrowed down to one enzymatic defect that is involved in ... The genetic origin of this disease would indicate gene therapy holds the most promise for future development of a cure. But at ...

Niemann-Pick type C disease, Refsum's disease, glucose transporter type 1 deficiency, episodic ataxia type 2, gluten ataxia, ... Wilson's disease is an autosomal-recessive gene disorder whereby an alteration of the ATP7B gene results in an inability to ... Gluten ataxia is an autoimmune disease triggered by the ingestion of gluten. Early diagnosis and treatment with a gluten-free ... Haldeman-Englert C. "Wilson's disease - PubMed Health". PubMed Health. Archived from the original on 27 July 2014. Mitoma H, ...

Refsum disease, and other rare retinal degenerative diseases. The Foundation funds research in a number of scientific areas ... Stargardt disease and related conditions. These diseases, which affect more than 10 million Americans and millions more ... Stargardt disease, Best disease, choroideremia, retinoschisis, Leber congenital amaurosis, Bardet-Biedl syndrome, cone ... It is the only event of its kind - created solely for individuals and families who are affected by retinal diseases. Nowhere ...

Pemphigus vulgaris Recurrent focal and segmental glomerulosclerosis in the transplanted kidney Refsum disease Rhabdomyolysis ... For example, donations are tested for HIV by ELISA, which shows if they have been exposed to the disease, as well as by nucleic ... It is important to note that plasma exchange therapy in and of itself is useful to temper the disease process, while ... An important use of plasmapheresis is in the therapy of autoimmune disorders, where the rapid removal of disease-causing ...