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| Pipecolic acidemia Classification and external resources |
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|---|---|
| Pipecolic acid | |
| ICD-9 | 270.7 |
| OMIM | 600964 |
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.[1]
See also
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.
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Wikipedia content modification information:
- This page was last modified on 9 July 2008, at 08:12.
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