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 journalLetter

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)

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    Hajra, A. K., Datta, N. S., Jackson, L. G., Moser, A. B., Moser, H. W., Larsen, J. W., & Powers, J. (1985). Prenatal Diagnosis of Zellweger Cerebrohepatorenal Syndrome. New England Journal of Medicine, 312(7), 445-446. https://doi.org/10.1056/NEJM198502143120717