Pipecolic acidemia
Pipecolic acidemia is a very rare autosomal recessive inborn [errors of metabolism|metabolic disorder] that is caused by a peroxisomal defect.
Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia, as well as other peroxisomal disorders, including both Infantile [Refsum disease|infantile] and adult Refsum disease, and Zellweger syndrome.
The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.