Pipecolic acidemia
| Pipecolic acidemia | |
|---|---|
|
| |
| Classification and external resources | |
| ICD-9 | 270.7 |
| OMIM | 239400 600964 |
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]
Characteristics
The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
See also
- AASDHPPT
- PHYH
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): 2044–2048. 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
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||