Hyperpipecolic Acidemia: Occurrence in an Infant With Clinical Findings of the Cerebrohepatorenal (Zellweger) Syndrome

• An infant with clinical presentation of the cerebrohepatorenal syndrome (CHRS) of Zellweger was found to have increased plasma and urinary concentrations of pipecolic acid. When given a loading dose of DL-pipecolic acid hydrochloride, she showed a reduced clearance rate for that acid. Piperidine, Δ⁶piperidine-2-carboxylic acid, and α-aminoadipic acid were not detected in plasma or urine. Her response to a lysine load was comparable to that of controls. These data provide further evidence of a connection between hyperpipecolic acidemia and CHRS.