Pipecolic acidemia explained

Pipecolic acidemia
Synonyms:Hyperpipecolic acidemia or Hyperpipecolatemia
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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), as well as other peroxisomal disorders, including both infantile and adult Refsum disease,[1] and Zellweger syndrome.[2]

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

See also

Notes and References

  1. Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM . Oct 1993 . A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation . Neurology . 43 . 10 . 2044–2048 . 10.1212/wnl.43.10.2044 . 8413964 . 30110852.
  2. Brul . S. . Westerveld . A. . Strijland . A. . Wanders . R. . Schram . A. . Heymans . H. . Schutgens . R. . Van Den Bosch . H. . Tager . J. . June 1988 . Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis . Journal of Clinical Investigation . Free full text . 81 . 6 . 1710–1715 . 10.1172/JCI113510 . 442615 . 2454948.

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