Cerebro-hepato-renal Syndrome of Zellweger. A Report of Eight Cases with Comments Upon the Incidence, the Liver Lesion, and a Fault in Pipecolic Acid Metabolism

Overview

Journal J Pediatr

Specialty Pediatrics

Date 1975 Mar 1

PMID 1113225

Citations 57

Authors

D M Danks

P Tippett

C Adams

P Campbell

Affiliations

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Abstract

Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile ducts as previously suggested. Elevated levels of pipecolic acid were found in blood and urine and may be related to the basic defect.

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