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Phytanic acid α‐oxidase deficiency (Refsum disease) presenting in infancy
Author(s) -
Herbert M. A.,
Clayton P. T.
Publication year - 1994
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/bf00711620
Subject(s) - phytanic acid , peroxisomal disorder , hypotonia , endocrinology , medicine , zellweger syndrome , inborn error of metabolism , pipecolic acid , peroxisome , biochemistry , biology , amino acid , receptor
Summary This report describes a patient with high serum phytanic acid concentration due to phytanic acid α‐oxidase deficiency (classical Refsum disease). He presented unusually early, hypotonia and developmental delay being apparent by 7 months. A generalized peroxisomal disorder (so‐called ‘infantile Refsum disease’) was excluded by analyses of pristanic acid, very long‐chain fatty acids, bile acids and plasmalogen synthesis. The early presentation raises the possibility of in utero exposure to phytanate.