- phytanic acid storage disease
- 1. Refsum d. 2. any of several disorders characterized by abnormal accumulation of phytanic acid in tissues.
Medical dictionary. 2011.
phytanic acid storage disease
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Phytanic acid storage disease (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
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
Disease, Refsum’s — 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
Refsum disease — Classification and external resources Phytanic acid ICD 10 G60.1 … 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’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 — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical dictionary
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… … Medical dictionary
nervous system disease — Introduction any of the diseases or disorders that affect the functioning of the human nervous system (nervous system, human). Everything that humans sense, consider, and effect and all the unlearned reflexes of the body depend on the… … Universalium
List of neurological disorders — This is a list of major and frequently observed neurological disorders (e.g., Alzheimer s disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). Contents: Top · 0–9 A B C D E F G H I J K L M N O P … Wikipedia
