The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.

doi:10.1007/s10545-010-9115-5

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Article

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.

Journal of inherited metabolic disease - 1 Oct 2010

Schatz Ulrich A, Ensenauer Regina

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder. Typically, undiagnosed individuals are asymptomatic until an episode of increased energy demand and fasting occurs, resulting in metabolic derangement. Phenotypic heterogeneity has been increasingly realized, with reports of both neonates and adults manifesting with life-threatening symptoms including...

Topics

Acyl-CoA Dehydrogenase
Adolescent
Adult
Age Factors
Child
Child, Preschool
Disease Progression
Fatty Acids
Genetic Testing
Genotype
Humans
Infant
Infant, Newborn
Lipid Metabolism, Inborn Errors
Mitochondria
Mitochondrial Diseases
Neonatal Screening
Oxidation-Reduction

Source

Open in PubMed

Identifiers

PMID: 20532824
DOI: 10.1007/s10545-010-9115-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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