| Pipecolic acidemia | |
|---|---|
| Other names | Hyperpipecolic acidemia or Hyperpipecolatemia [1] |
 | |
| Pipecolic acid | |
| Specialty | Medical genetics, endocrinology  |
Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect.
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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.[ citation needed ]
