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(hī'pĕr-pip'ĕ-kō'lă-mē-ă), [MIM*239400]
A metabolic disorder in which serum concentration of pipecolic acid is greatly increased; characterized by hepatomegaly and progressive generalized demyelination of the nervous system.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Other ratios of less diagnostic power were those for pyroglutamic acid (pipecolic; m/z 186) to phenylalanine, used in the diagnosis of pyroglutamic acidemia or pipecolic acidemia [33].