Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.

ABSTRACT

Pipecolic acid is a biochemical marker frequently detected in group 1 peroxisomal disorders (peroxisomal biogenesis disorders). Its presence, in addition to the constellation of particular phenotypic manifestations and pathologic findings, has led to its recent classification under disorders of peroxisomal biogenesis as a separate disease entity (hyperpipecolic acidemia or hyperpipecolatemia). The clinical, biochemical, and radiologic findings observed in three patients diagnosed with hyperpipecolic acidemia are reported.