Article
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Pediatrics - 1 Jul 2001
Wood J C, Magera M J, Rinaldo P, Seashore M R, Strauss A W, Friedman A
Abstract excerpt
Very long chain fatty acid dehydrogenase (VLCAD) deficiency is a rare but treatable cause of cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, ventricular arrhythmias, and sudden death. Unrecognized, VLCAD deficiency may be rapidly progressive and fatal, secondary to its cardiac involvement. Because early diagnosis improves outcome, we present a neonate with VLCAD deficiency in whom...
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