Prenatal Diagnosis of Zellweger Cerebrohepatorenal Syndrome

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.