Hyperpipecolic acidemia: Clinical, biochemical, and radiologic observations

Pipecolic acid is a biochemical marker frequently detected in group 1 perox isomal disorders (peroxisomal biogenesis disorders). Its presence, in addit ion to the constellation of particular phenotypic manifestations and pathol ogic findings, has led to its recent classification under disorders of pero xisomal biogenesis as a separate disease entity (hyperpipecolic acidemia or hyperpipecolatemia). The clinical, biochemical, and radiologic findings ob served in three patients diagnosed with hyperpipecolic acidemia are reporte d. (C) 1999 by Elsevier Science Inc, Ail rights reserved.