Hyperpipecolatemia

Common Name(s)

Hyperpipecolatemia

Hyperpipecolatemia refers to the presence of abnormally high levels of pipecolic acid in the blood. It has been debated whether hyperpipecolatemia is generally a symptom of other known peroxisome biogenesis disorders (PBDs), a group of diseases caused by defective assembly of peroxisomes in cells (compartments that contain enzymes needed to break down many different substances). Although this is often the case, in some cases it is considered to be a separate disease entity that falls under the category of PBDs. Additionally, elevations in pipecolic acid can also occur in pyridoxine-dependent epilepsy and in individuals with general psychomotor delay. Signs and symptoms may vary widely in nature and severity depending on the underlying cause of the condition. When it is a feature of a PBD or pyridoxine-dependent epilepsy, it is inherited in an autosomal recessive manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperpipecolatemia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperpipecolatemia" returned 2 free, full-text research articles on human participants. First 3 results:

The significance of hyperpipecolatemia in Zellweger syndrome.
 

Author(s): J Dancis, J Hutzler

Journal: Am. J. Hum. Genet.. 1986 May;38(5):707-11.

 

The plasma pipecolic acid concentration in two newborn infants with Zellweger syndrome at ages 4 and 10 days were 7.8 and 7.7 microM. Reported concentrations from this laboratory for normal newborn infants averaged 12 microM +/- 5.6 (SD). Both patients had the facies and severe hypotonia ...

Last Updated: 31 Dec 1969

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Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.
 

Author(s): P D Gatfield, E Taller, G G Hinton, A C Wallace, G M Abdelnour, M D Haust

Journal: Can Med Assoc J. 1968 Dec;99(25):1215-33.

 

Last Updated: 31 Dec 1969

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The terms "Hyperpipecolatemia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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