Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders.

Abstract excerpt

Mitochondrial fatty acid beta-oxidation disorders (FAOD) are a group of clinically and biochemically heterogeneous inherited metabolic defects. The spectrum of phenotypes has expanded from hepatic encephalopathy to encompass myopathy, cardiomyopathy, peripheral neuropathy, sudden death and pregnancy complicated by fetal FAOD. Pre-symptomatic diagnosis is important to prevent morbidity and this is now achievable...

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