Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

M.R. Baumgartner; G.A. Jansen; N.M. Verhoeven; P.A. Mooyer; C.A.J.M. Jakobs; F. Roels; M. Espeel; A. Fourmaintraux; H. Bellet; R.J. Wanders; J.M. Saudubray

doi:https://doi.org/10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P

Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

M.R. Baumgartner, G.A. Jansen, N.M. Verhoeven, P.A. Mooyer, C.A.J.M. Jakobs, F. Roels, M. Espeel, A. Fourmaintraux, H. Bellet, R.J. Wanders, J.M. Saudubray

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12 Citations (Scopus)

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

Original language	English
Pages (from-to)	109-113
Journal	Annals of neurology
Volume	47
Issue number	1
DOIs	https://doi.org/10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P
Publication status	Published - 2000

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https://doi.org/10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P

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Baumgartner, M. R., Jansen, G. A., Verhoeven, N. M., Mooyer, P. A., Jakobs, C. A. J. M., Roels, F., Espeel, M., Fourmaintraux, A., Bellet, H., Wanders, R. J., & Saudubray, J. M. (2000). Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Annals of neurology, 47(1), 109-113. https://doi.org/10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P

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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",

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T1 - Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

AU - Baumgartner, M.R.

AU - Jansen, G.A.

AU - Verhoeven, N.M.

AU - Mooyer, P.A.

AU - Jakobs, C.A.J.M.

AU - Roels, F.

AU - Espeel, M.

AU - Fourmaintraux, A.

AU - Bellet, H.

AU - Wanders, R.J.

AU - Saudubray, J.M.

PY - 2000

Y1 - 2000

N2 - 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

AB - 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

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DO - https://doi.org/10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P

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