Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction

Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development. An elevated plasma phytanic acid concentration and a deficient phytanic a...

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Veröffentlicht in:	Journal of inherited metabolic disease 1986-06, Vol.9 (2), p.169-174
Hauptverfasser:	Poll‐The, B. T., Saudubray, J. M., Ogier, H., Schutgens, R. B. H., Wanders, R. J. A., Schrakamp, G., Bosch, H., Trijbels, J. M. F., Poulos, A., Moser, H. W., Eldere, J., Eyssen, H. J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - deficiency Bile Acids and Salts - blood Biological and medical sciences Blood Platelets - enzymology Child Errors of metabolism Fatty Acids - blood Fatty Acids - metabolism Fibroblasts - metabolism Humans Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Microbodies - physiology Mixed Function Oxygenases Oxidoreductases - deficiency Phytanic Acid - blood Phytanic Acid - deficiency Pipecolic Acids - blood Pipecolic Acids - urine Plasmalogens - metabolism Refsum Disease - metabolism
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