Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Pipecolic acidemia
Introduction
Hyperpipecolatemia (also called Hyperpipecolic acidemia or Pipecolic acidemia) is a very rare metabolic disorder that is caused by a peroxisomal defect. It is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
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