Urgent metabolic service improves survival in long‐chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Abstract excerpt

UNLABELLED: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder with especially high mortality and uncertain long-term outcome. The aim of the study was to analyze the influence of diagnostic approach on survival in 59 affected children. Referral to a metabolic center was replaced over time by urine/blood testing in centralized metabolic laboratory (selective...

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