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Article

Molecular and functional characterisation of mild MCAD deficiency.

Human genetics - 1 May 2001

Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann G F, Penzien J, Ruiter J P, Wanders R J, Mayatepek E

Abstract excerpt

We report a novel mild variant of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) diagnosed in four infants who, in neonatal screening, showed abnormal acylcarnitine profiles indicative of MCADD. Three patients showed completely normal urinary organic acids and phenylpropionic acid loading tests were normal in all four patients. Enzyme studies showed residual MCAD activities between "classical" MCADD and...

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Source

Identifiers

PMID: 11409868
DOI: 10.1007/s004390100501

Genes

ACADM

Variants

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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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Molecular and functional characterisation of mild MCAD deficiency.PMID 11409868Read ↗

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A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.Semantic proximity Read ↗

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