Pipecolic acidemia

Pipecolic acidemia

Infobox_Disease
Name = PAGENAME


Caption = Pipecolic acid
DiseasesDB =
ICD10 =
ICD9 = ICD9|270.7
ICDO =
OMIM = 600964
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

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.cite journal |author=Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM |title=A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation |journal=Neurology |volume=43 |issue=10 |pages=2044–8 |year=1993 |month=October |pmid=8413964 ]

ee also

* PHYH

References

External links

* [http://www.biology-online.org/dictionary/hyperpipecolatemia Definition in biology-online.org]


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