Work

Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution

Year: 2000

Type: article

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.

Source: Annals of Neurology

DOI: 10.1002/1531-8249(200001)47:1<109::aid-ana18>3.0.co;2-p

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

Institutions: Hôpital Necker-Enfants Malades, Hôpital Saint Eloi, Ghent University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2167519982

FWCI: 1.542

Cites: 15

Cited by: 15

Related to: 10