Refsum's syndrome

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Refsum's syndrome

[ref′soo͡mz]

Etymology: Sigvald Refsum, Norwegian physician, b. 1907

a rare hereditary disorder of lipid metabolism in which phytanic acid cannot be broken down. It is characterized by ataxia, abnormalities of the bones and skin, peripheral neuropathy, cardiomyopathy, deafness, and retinitis pigmentosa. Foods containing phytanic acid must be avoided to prevent progressive deterioration. Also called phytanic acid storage disease.

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Adie's pupil Axenfeld's anomaly disease Horner's muscle phytanic acid storage disease spinocerebellar disorder syndrome			refractive surgery refractometer refractometry refractoriness refractory refractory anemia refractory anemia with excess blasts Refractory Cancer refractory hypertension refractory medium refractory osteomyelitis refractory period refractory periodontitis refractory septic shock refractory state refracture reframing refrangible refresh refrigerant refrigeration refrigeration anesthesia refringence refringent Refsum's disease Refsum's syndrome Refugee refusal refusal of treatment refusal, informed refusion REG regeneration regenerative left shift Regenerative Medicine regenerative polyp regime regimen regio region region of back region of chest region of face region of head region of inferior limb region of interest region of recombination region of superior limb region, cervicothoracic region, interprismatic region, lumbosacral			refrigeratory Refrigerent Refrigerent Refrigerent Refrigerium REFRIGUA refringence refringence refringence refringences refringences Refringency refringent refringent refroze refrozen REFS REFS REFS REFS Refsmmat REFSN REFSQ Refsum disease Refsum disease Refsum Disease with Increased Pipecolic Acidemia Refsum's disease Refsum's disease Refsum's disease Refsum's disease Refsum's syndrome reft reft reft REFTEL Reftinskii Reftinskii State Regional Electric Power Plant REFTRA REFTRANS REFUBAR refuel refuel refuel Refuel On the Move refueled refueled refueling refueling Refueling Area Commander Refueling Capability Assessment Model Refueling Complex Overhaul Refueling Documentation Control Officer Refueling Hold Order Refueling Machine Refueling Maintenance Refueling Outage Refueling Overhaul Refueling Sequence Chart Refueling Water Storage Tank refueling water system refuelled

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