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

Dora W. Arneson, PhD; Robert E. Tipton, MD; Jewell C. Ward, MD, PhD

Arch Neurol. 1982;39(11):713-716.

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, ⁶piperidine-2-carboxylic acid, and -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.

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.

Footnotes
Accepted for publication Feb 10, 1982.

Reprint requests to Child Development Center, University of Tennessee, 711 Jefferson Ave, Memphis, TN 38105 (Dr Arneson).