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Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia, is a very rare [1 ] 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 [2 ] infantile and adult Refsum disease, [3 ] [4 ] and [5 ] Zellweger syndrome. [6 ]
Characteristics [ edit ]
The disorder is characterized by an increase in
pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
See also [ edit ]
References [ edit ]
^ Online 'Mendelian Inheritance in Man' (OMIM) 239400
^ Online 'Mendelian Inheritance in Man' (OMIM) 600964
^ 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. doi: 10.1212/wnl.43.10.2044. PMID 8413964.
^ Online 'Mendelian Inheritance in Man' (OMIM) 266510
^ Online 'Mendelian Inheritance in Man' (OMIM) 266500
^ 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. doi: 10.1172/JCI113510. PMC 442615. PMID 2454948.
External links [ edit ]
IE of RTT