Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution

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...

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Bibliographic Details
Published in:Annals of neurology 2000-01, Vol.47 (1), p.109-113
Main Authors: Baumgartner, M. R., Jansen, G. A., Verhoeven, N. M., Mooyer, P. A. W., Jakobs, C., Roels, F., Espeel, M., Fourmaintraux, A., Bellet, H., Wanders, R. J. A., Saudubray, J. M.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Errors of metabolism
Female
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - metabolism
Mixed Function Oxygenases - metabolism
Phytanic Acid - metabolism
Pipecolic Acids - metabolism
Refsum Disease - enzymology
Refsum Disease - genetics
Refsum Disease - metabolism
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Summary: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. Ann Neurol 2000;47:109–113
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P