MCAD deficiency
From WikiLectures
Medium-chain acyl-coenzyme A dehydrogenase A deficiency (medium-chain acyl-coenzyme A dehydrogenase, MCAD) is a relatively common inherited metabolic disorder of mitochondrial fatty acid β-oxidation metabolism. The incidence in the UK and US is 1: 10,000.
Clinical signs[edit | edit source]
Life-threatening hypoglycemia occurs during starvation, and infections are also common. The disease manifests itself in infancy, with a positive prognosis for survival into old age.
Therapy[edit | edit source]
The treatment of MCAD deficiency consists in:
- starvation prevention;
- corn starch nutrition;
- parenteral nutrition must be instituted in lethargy and vomiting leading to coma (differential diagnostic attention to Reye's syndrome).
Links[edit | edit source]
Related articles[edit | edit source]
References[edit | edit source]
- Hřebíček, Martin: Dědičné poruchy metabolismu mitochondrií. [přednáška z patobiochemie], 12. 10. 2010
- FERNANDES, John, Jean-Marie SAUDUBRAY a Georges van den BERGHE, et al. Diagnostika a léčba dědičných metabolických poruch. 4. vydání. Praha : Triton, 2008. 607 s. ISBN 978-80-7387-096-6.
