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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.