Refsum's disease

Refsum's disease
Ref·sum's disease 'ref-səmz- n an autosomal recessive lipidosis characterized by faulty metabolism of phytanic acid resulting in its accumulation in the blood, retinitis pigmentosa, ataxia, deafness, and mental retardation
Ref·sum 'ref-su̇m Sigvald Bernhard (1907-1991)
Norwegian physician. Refsum served as a professor of neurology and as a specialist in neurology and psychiatry at a succession of Norwegian hospitals. In addition to identifying Refsum's disease, he did research on the genetic aspects of neurology.

Medical dictionary. 2011.

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  • Refsum's disease — Infobox Disease Name = PAGENAME Caption = Phytanic acid DiseasesDB = 11213 ICD10 = ICD10|G|60|1|g|60 ICD9 = ICD9|356.3 ICDO = OMIM = 266500 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 705 MeshID = D012035 Refsum s disease (Refsum Thiébaut …   Wikipedia

  • Refsum's disease — noun A peroxisomal neurological disease that results in the malformation of myelin sheaths around nerve cells. Syn: Refsum Thiébaut disease, Refsum Thiébaut Klenk Kahlke disease, Heredopathia atactica polyneuritiformis …   Wiktionary

  • Refsum's disease — an inherited disorder of lipid metabolism resulting in abnormal accumulation of phytanic acid (a fatty acid) in body tissues. This results in a peripheral neuropathy affecting the sensory and motor nerves, diminishing vision due to retinitis… …   The new mediacal dictionary

  • Refsum’s disease — A genetic disorder affecting metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including inflammation of numerous nerves (polyneuritis), diminishing vision due to retinitis… …   Medical dictionary

  • Disease, phytanic acid storage (Refsum’s disease) — A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia)… …   Medical dictionary

  • Refsum disease — Classification and external resources Phytanic acid ICD 10 G60.1 …   Wikipedia

  • Refsum-Thiebaut-Krankheit — Klassifikation nach ICD 10 G60.1 Refsum Krankheit …   Deutsch Wikipedia

  • Refsum-Thiébaut-Krankheit — Klassifikation nach ICD 10 G60.1 Refsum Krankheit …   Deutsch Wikipedia

  • Refsum-Syndrom — Klassifikation nach ICD 10 G60.1 Refsum Krankheit …   Deutsch Wikipedia

  • Refsum's syndrome — Refsum Disease (also called Refsum s Syndrome) is a genetic disorder that primarily affects the nervous system with a series of debilitating symptoms. Some symptoms include: degenerative nerve disease (peripheral neuropathy); vision loss… …   Wikipedia

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