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