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Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

✍ Scribed by Daniel Steinmann; Jana Knab; Hans-Joachim Priebe


Book ID
109032262
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
121 KB
Volume
20
Category
Article
ISSN
1155-5645

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## Abstract Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the __HADHA__ gene. We report on a 22‐month‐old child who was identified on expanded newborn screening with an abnormal acylcarnitine