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Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction
Author(s) -
PollThe 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.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799455
Subject(s) - phytanic acid , zellweger syndrome , endocrinology , peroxisomal disorder , medicine , pipecolic acid , plasmalogen , peroxisome , retinitis pigmentosa , biology , biochemistry , retinal , phospholipid , receptor , amino acid , membrane
Abstract 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 acid oxidase activity in fibroblasts were found with an accumulation of very long chain fatty acids in plasma and fibroblasts. There were elevated pipecolic acid levels in plasma, urine and CSF, and abnormal bile acid metabolites in plasma. Deficient activity of acylCoA: dihydroxyacetone phosphate acyl transferase was found in thrombocytes and fibroblasts of these patients as well as an impaired de novo plasmalogen biosynthesis in fibroblasts. These biochemical abnormalities, previously described in the Zellweger syndrome, suggest multiple peroxisomal dysfunction in our patients.