Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1986-08

AUTHORS

R. J. A. Wanders, R. B. H. Schutgens, G. Schrakamp, H. van den Bosch, J. M. Tager, A. W. Schram, T. Hashimoto, B. T. Poll-Thé, J. M. Saudubrau

ABSTRACT

In recent years a number of biochemical abnormalities have been described in patients with the infantile form of Refsum disease, including the accumulation of very long chain fatty acids, trihydroxycoprostanoic acid and pipecolic acid. In this paper we show that catalase-containing particles (peroxisomes), alkyl dihydroxyacetone phosphate synthase and acyl-CoA oxidase protein are deficient in patients with infantile Refsum disease. These findings suggest that in the infantile form of Refsum disease, as in the cerebro-hepato-renal (Zellweger) syndrome the multiplicity of biochemical abnormalities is due to a deficiency of peroxisomes and hence to a generalized loss of peroxisomal functions. As a consequence the infantile form of Refsum disease can be diagnosed biochemically by methods already available for the prenatal and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome. More... »

PAGES

172-175

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00446057

DOI

http://dx.doi.org/10.1007/bf00446057

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035379757

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2429839


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