Hyperpipecolatemia

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Hyperpipecolatemia (also called Hyperpipecolic acidemia or Pipecolic acidemia) is a very rare metabolic disorder that is caused by a peroxisomal defect. It is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.

Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA),[1] as well as other peroxisomal disorders, including both infantile and adult Refsum disease

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