Prenatal Diagnosis of Zellweger Cerebrohepatorenal Syndrome

Amiya K. Hajra, Nabanita S. Datta, Laird G. Jackson, Ann B. Moser, Hugo W. Moser, John W. Larsen, James Powers

Research output: Contribution to journalLetterpeer-review

Abstract

To the Editor: Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome has been accomplished by demonstrating abnormally high levels of hexacosanoic (C26:0) and hexacosenoic (C26:l) acids in cultured amniocytes1 or amniotic fluid.2 Studies with tissues obtained post mortem, cultured skin fibroblasts, or leukocytes from patients with Zellweger syndrome have shown that the activity of acyl-CoA:dihydroxyacetone phosphate (DHAP) acyltransferase is deficient.34 This enzyme is required for plasmalogen synthesis and is located in peroxisomes,56 as are the enzymes required for degradation of very-long-chain fatty acids.7 Peroxisomes are known to be lacking in the Zellweger syndrome.8 Table 1 shows that the activity of DHAP acyltransferase was deficient.

Original languageEnglish (US)
Pages (from-to)445-446
Number of pages2
JournalNew England Journal of Medicine
Volume312
Issue number7
DOIs
StatePublished - Feb 14 1985

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint

Dive into the research topics of 'Prenatal Diagnosis of Zellweger Cerebrohepatorenal Syndrome'. Together they form a unique fingerprint.

Cite this