VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY IN 2 SIBLINGS - EVOLUTION AFTER PRENATAL-DIAGNOSIS AND PROMPT MANAGEMENT

A boy had neonatal seizure, lethargy, and metabolic acidosis at presen tation. He recovered completely, but the recurrence of a similar episo de with associated cardiomyopathy and dicarboxylic aciduria at 10 mont hs of age led to the recognition of a fatty acid oxidation defect. A d iagnosis of very long chain acyl-coenzyme A dehydrogenase deficiency w as later made by enzyme assay in culture fibroblasts from this child, as well as in cultured amniotic cells from a sibling fetus. This prena tal diagnosis forestalled neonatal injury by close clinical and metabo lic monitoring of the second infant. Early diagnosis and management sh ould potentially improve the generally poor prognosis for patients wit h very long chain acyl-coenzyme A dehydrogenase deficiency.