Pipecolic acidemia
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| Pipecolic acidemia | |
|---|---|
| Other names | Hyperpipecolic acidemia or Hyperpipecolatemia[1] |
 | |
| 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.[citation needed]
See also
[edit | edit source]References
[edit | edit source]- ^ Online Mendelian Inheritance in Man (OMIM): 239400
- ^ Online Mendelian Inheritance in Man (OMIM): 600964
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
- ^ Online Mendelian Inheritance in Man (OMIM): 266510
- ^ Online Mendelian Inheritance in Man (OMIM): 266500
- ^ Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
External links
[edit | edit source]
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