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Article

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Journal of inherited metabolic disease - 1 Nov 2018

Hesse Julia, Braun Carina, Behringer Sidney, Matysiak Uta, Spiekerkoetter Ute, Tucci Sara

Abstract excerpt

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is the most common defect of mitochondrial β-oxidation of long-chain fatty acids. However, the unambiguous diagnosis of true VLCADD patients may be challenging, and a high rate of false positive individuals identified by newborn screening undergo confirmation diagnostics. In this study, we show the outcome of enzyme testing in lymphocytes as a...

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Source

Identifiers

PMID: 30194637
DOI: 10.1007/s10545-018-0245-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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