Hyperpipecolatemia

Overview

Type of disease: Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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