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Refsum Disease Diseases and Disorders, Disorders of Fatty Acid Metabolism, Disorders of Peroxisome Biogenesis and Function Last Updated: July 13, 2026 Introduction to Refsum Disease Refsum disease (heredopathia atactica polyneuritiformis) is an autosomal recessive disorder named for Sigvald Refsum who, in 1945, initially characterized the cardinal clinical features of this disease that...

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Candidate transporters and receptors involved in colistin uptake across the brush-border membrane of the proximal tubular cells are the Glycosylphosphatidylinositol (GPI)-anchored protein megalin 13 , the human peptide transporter 2 (PEPT2, SLC15A2 ) and the carnitine/organic cation transporter 2 (OCTN2, SLC22A5 ) 14,15

Supplementary Table 1) based on a variety of fat sources

PMCID: PMC4258024