Neha Patil (Editor)

Pipecolic acidemia

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Covid-19
ICD-9-CM  270.7
OMIM  239400 600964
Pipecolic acidemia

Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia, 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), as well as other peroxisomal disorders, including both infantile and adult Refsum disease, and Zellweger syndrome.

Characteristics

The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.

References

Pipecolic acidemia Wikipedia


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