Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect.

Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA),[2] as well as other peroxisomal disorders, including both infantile and adult Refsum disease,[3][4][5] and Zellweger syndrome.

[6] The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.

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This genetic disorder article is a stub.