Abstract
The infantile and classic forms of phytanic acid storage disease belong to the newly recognized group of peroxisomal disorders. In this paper we report the full clinical, morphological and biochemical results in a patient with infantile phytanic acid storage disease. The results indicate a generalized loss of peroxisomal functions due to a deficiency of peroxisomes as demonstrated in hepatocytes and cultured skin fibroblasts.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acyl Coenzyme A / metabolism
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Acyltransferases / metabolism
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Bile Acids and Salts / metabolism
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Fatty Acids / blood
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Fatty Acids / metabolism
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Fibroblasts / metabolism
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Humans
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Infant
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Male
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Microbodies / physiology*
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Microbodies / ultrastructure
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Oxidation-Reduction
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Phytanic Acid / blood
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Phytanic Acid / metabolism*
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Refsum Disease / blood
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Refsum Disease / pathology
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Refsum Disease / physiopathology*
Substances
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Acyl Coenzyme A
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Bile Acids and Salts
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Fatty Acids
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Phytanic Acid
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hexacosanoic acid
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Acyltransferases
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glycerone-phosphate O-acyltransferase