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.

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]}

See also

• AASDHPPT
• PHYH

References

External links

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