pipecolic acidemia

{{Infobox medical condition (new)

| name = Pipecolic acidemia

| synonyms = Hyperpipecolic acidemia or Hyperpipecolatemia{{OMIM|239400}}

| image = Piperidine-2-carboxylic acid.png

| width = 216px

| caption = Pipecolic acid

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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),{{OMIM|600964}} as well as other peroxisomal disorders, including both infantile and adult Refsum disease,{{Cite journal |vauthors=Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM |date=Oct 1993 |title=A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation |journal=Neurology |volume=43 |issue=10 |pages=2044–2048 |doi=10.1212/wnl.43.10.2044 |pmid=8413964 |s2cid=30110852}}{{OMIM|266510}}{{OMIM|266500}} and Zellweger syndrome.{{Cite journal |last=Brul |first=S. |last2=Westerveld |first2=A. |last3=Strijland |first3=A. |last4=Wanders |first4=R. |last5=Schram |first5=A. |last6=Heymans |first6=H. |last7=Schutgens |first7=R. |last8=Van Den Bosch |first8=H. |last9=Tager |first9=J. |date=June 1988 |title=Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis |journal=Journal of Clinical Investigation |type=Free full text |volume=81 |issue=6 |pages=1710–1715 |doi=10.1172/JCI113510 |pmc=442615 |pmid=2454948}}

The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.{{cn|date=September 2021}}