Pipecolic acidemia
| Pipecolic acidemia | |
|---|---|
| Other names | Hyperpipecolic acidemia or Hyperpipecolatemia[1] |
 | |
| Pipecolic acid | |
| Specialty | Medical genetics, endocrinology  |
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
neuropathy and hepatomegaly.[citation needed
]
See also
- AASDHPPT
- PHYH
References
- ^ Online Mendelian Inheritance in Man (OMIM): 239400
- ^ Online Mendelian Inheritance in Man (OMIM): 600964
- S2CID 30110852.
- ^ Online Mendelian Inheritance in Man (OMIM): 266510
- ^ Online Mendelian Inheritance in Man (OMIM): 266500
- PMID 2454948.
External links
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