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Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

Annals of neurology (2000-01-13)
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
ABSTRACT

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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
L-Pipecolic acid, 99% (titration)
Sigma-Aldrich
L-Pipecolic acid, Proline homolog., 99%

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