Pipecolic acidemia
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| Pipecolic acidemia | |
|---|---|
| 216px | |
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-9-CM | 270.7 |
| OMIM | 239400 600964 |
| Patient UK | Pipecolic acidemia |
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
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 239400
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600964
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 266510
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 266500
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
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