The Philadelphia Guide: Inpatient Pediatrics by Samir S. Shah Lisa B. Zaoutis Marina Catallozzi & Gary Frank

Author:Samir S. Shah, Lisa B. Zaoutis, Marina Catallozzi & Gary Frank
Language: eng
Format: epub
Publisher: McGraw-Hill Education LLC
Published: 2016-04-19T16:00:00+00:00

Mitochondrial FAOD affecting β-oxidation of long-chain fatty acids. For long-chain (especially 12–16 carbon length) fatty acids, one enzyme (mitochondrial “trifunctional protein”) carries out hydratase, 3-hydroxyacyl CoA dehydrogenase, and thiolase reactions. Some mutations affect all three activities, while others affect only the dehydrogenase. Impaired ability to oxidize long-chain fatty acids severely compromises use of fat as an energy source.

• Isolated long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency is associated with hypoketotic hypoglycemia, fulminant hepatic disease, hypertrophic cardiomyopathy, episodic rhabdomyolysis, peripheral neuropathy, and pigmentary retinopathy

• Mitochondrial trifunctional protein (TFP) deficiency manifests as hypoketotic hypoglycemia, dilated cardiomyopathy, episodic rhabdomyolysis, and hypotonia

• Pregnant mothers carrying fetuses affected with TFP and LCHAD have an increased incidence of fatty liver of pregnancy and HELLP syndrome

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