Pipecolic acidemia is a very rare autosome, autosomal dominance (genetics), recessive inborn errors of metabolism, metabolic disorder that is caused by a peroxisomal disorder, peroxisomal defect.
Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA),
as well as other peroxisomal disorders, including both Infantile Refsum disease, infantile and Refsum disease, adult Refsum disease,
and Zellweger syndrome.
The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
See also
* AASDHPPT
* PHYH
References
External links
Amino acid metabolism disorders
Autosomal recessive disorders
Rare diseases
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