Pipecolic acidemia
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Template:Infobox medical condition (new) 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),[1] as well as other peroxisomal disorders, including both infantile and adult Refsum disease,[2][3][4] and Zellweger syndrome.[5]
The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.Script error: No such module "Unsubst".
See also
References
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- ↑ Online Mendelian Inheritance in Man (OMIM): 600964
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- ↑ Online Mendelian Inheritance in Man (OMIM): 266510
- ↑ Online Mendelian Inheritance in Man (OMIM): 266500
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External links
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