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Article
November 1982

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

Author Affiliations

From the Child Development Center (Drs Arneson, Tipton, and Ward) and the Departments of Pediatrics (Genetics Section) (Drs Arneson, Tipton, and Ward) and Biochemistry (Drs Ward and Arneson), University of Tennessee Center for the Health Sciences, Memphis.

Arch Neurol. 1982;39(11):713-716. doi:10.1001/archneur.1982.00510230039011
Abstract

• 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.

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