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    J Neurol Sci. 1990 Aug;98(1):1-11.

    Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.

    Wanders RJ, Boltshauser E, Steinmann B, Spycher MA, Schutgens RB, van den Bosch H, Tager JM.

    Source

    Department of Pediatrics, University Hospital Amsterdam, The Netherlands.

    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.

    PMID:
    1700075
    [PubMed - indexed for MEDLINE]

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