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pipecolic acidemia

MIM.600964 ICD-9:270.7

Friday 26 March 2010

Pipecolic acidemia (also called "hyperpipecolic acidemia" or "hyperpipecolatemia") is a very rare metabolic disorder that is caused by a peroxisomal defect.

It is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.

It can be associated with Refsum disease.

See also

- PHYH

References

- Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM (October 1993). A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation. Neurology 43 (10): 2044–8. PMID 8413964.