Refsum disease

Refsum disease
an autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid α-hydroxylase results in accumulation of phytanic acid; it is manifest chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia, and persistent elevation of protein in cerebrospinal fluid; there may also be ichthyosis, nerve deafness, and electrocardiographic abnormalities. Called also phytanic acid storage d., and heredopathia atactica polyneuritiformis.

Medical dictionary. 2011.

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

  • Refsum disease — Refsum disease. См. болезнь Рефсума. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Refsum disease (syndrome) — Ref·sum disease (syndrome) (refґsoom) [Sigvald Bernhard Refsum, Norwegian physician, 1907–1991] see under disease …   Medical dictionary

  • 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

  • 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-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 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 — 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… …   Medical dictionary

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