Pipecolic acidemia
Pipecolic acidemia | |
---|---|
| |
Pipecolic acid | |
Specialty |
Medical genetics, Endocrinology |
Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia,[1] 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
References
- ↑ 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&ndash, 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&ndash, 1715. doi:10.1172/JCI113510. PMC 442615. PMID 2454948.
External links
Classification |
---|
This article is issued from
Wikipedia.
The text is licensed under Creative Commons - Attribution - Sharealike.
Additional terms may apply for the media files.