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Phytanic acid α-oxidase deficiency (Refsum disease) presenting in infancy

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Summary

This report describes a patient with high serum phytanic acid concentration due to phytanic acid α-oxidase deficiency (classical Refsum disease). He presented unusually early, hypotonia and developmental delay being apparent by 7 months. A generalized peroxisomal disorder (so-called ‘infantile Refsum disease’) was excluded by analyses of pristanic acid, very long-chain fatty acids, bile acids and plasmalogen synthesis. The early presentation raises the possibility ofin utero exposure to phytanate.

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References

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Herbert, M.A., Clayton, P.T. Phytanic acid α-oxidase deficiency (Refsum disease) presenting in infancy. J Inherit Metab Dis 17, 211–214 (1994). https://doi.org/10.1007/BF00711620

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Keywords

  • Public Health
  • Internal Medicine
  • Bile Acid
  • Acid Concentration
  • High Serum