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Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).

Journal of inherited metabolic disease - 1 May 2026

Ramachandran Radha, Buttigieg Raphael, Eichler Florian, Leroy Bart P, Mahroo Omar, Huckfeldt Rachel M, Firman Sarah, Baldwin Eleanor, DeMarco Kristie, Kuranoff Susan, Fine Amena, Klingel Reinhard, Ferdinandusse Sacha, Hacia Joseph G, Wanders Ronald J, Wierzbicki Anthony S

Abstract excerpt

Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro-ophthalmological and adipose tissue accumulation of the dietary-derived phytanic acid (PA). This guidance reviews the clinical aspects of ARD and discusses interventions to address various...

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PMID: 42161578
DOI: 10.1002/jimd.70201

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