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Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution


Baumgartner, Matthias 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 (2000). Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Annals of Neurology, 47(1):109-113.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Life Sciences > Neurology
Health Sciences > Neurology (clinical)
Language:English
Date:2000
Deposited On:03 Feb 2020 15:40
Last Modified:31 Jul 2020 03:45
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0364-5134
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P
PubMed ID:10632109

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