3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Liver, Biliary Tract and Pancreatic Disease

Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023

The syndrome is caused by disordered metabolism of fatty acids by maternal mitochondria resulting from long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD). LCHAD deficiency is autosomal recessive and mothers are often found to be heterozygous for the E474Q missense mutation. This leads to accumulation of fat in the hepatocytes (Figure 9.8).

The place of a ketogenic diet in the treatment of resistant epilepsy: a comprehensive review

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Journal Information

Published in Nutritional Neuroscience, 2023

Ebru Cicek, Nevin Sanlier

Pyruvate carboxylase deficiency, primary carnitine deficiency, carnitine palmitoyltransferase I or II deficiency, carnitine conversion deficiency, medium-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, short-chain acyl dehydrogenase deficiency, medium-chain acyl deficiency dehydrogenase deficiency, long-chain acyl dehydrogenase deficiency, short-chain acyl dehydrogenase deficiency and porphyria are among the absolute contraindications [13].

3-hydroxyacyl-coenzyme A dehydrogenase deficiency

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Liver, Biliary Tract and Pancreatic Disease

The place of a ketogenic diet in the treatment of resistant epilepsy: a comprehensive review