Medicine:Pipecolic acidemia

From HandWiki
Pipecolic acidemia
Other namesHyperpipecolic acidemia or Hyperpipecolatemia[1]
Piperidine-2-carboxylic acid.png
Pipecolic acid

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),[2] as well as other peroxisomal disorders, including both infantile and adult Refsum disease,[3][4][5] and Zellweger syndrome.[6]

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

See also

  • PHYH


  1. Online Mendelian Inheritance in Man (OMIM) 239400
  2. Online Mendelian Inheritance in Man (OMIM) 600964
  3. "A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation". Neurology 43 (10): 2044–2048. Oct 1993. doi:10.1212/wnl.43.10.2044. PMID 8413964. 
  4. Online Mendelian Inheritance in Man (OMIM) 266510
  5. Online Mendelian Inheritance in Man (OMIM) 266500
  6. Brul, S.; Westerveld, A.; Strijland, A.; Wanders, R.; Schram, A.; Heymans, H.; Schutgens, R.; Van Den Bosch, H. et al. (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 81 (6): 1710–1715. doi:10.1172/JCI113510. PMID 2454948. 

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