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We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease. Molecular analysis of the phytanoyl-coenzyme A hydroxylase gene revealed a homozygous deletion causing a frameshift. Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the liver showed a reduced number of peroxisomes per cell and a larger average peroxisome size. These abnormal peroxisomes lacked catalase as did peroxisomes in fibroblasts of this patient. Such generalized peroxisomal abnormalities are not present in classic Refsum disease.


M R Baumgartner, G A Jansen, N M Verhoeven, P A Mooyer, C Jakobs, F Roels, M Espeel, A Fourmaintraux, H Bellet, R J Wanders, J M Saudubray. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Annals of neurology. 2000 Jan;47(1):109-13

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PMID: 10632109

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