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• W3042163005 abstract "Abstract Fatty acid oxidation disorders (FAOD) are a group of rare, autosomal recessive, metabolic disorders caused by variants of the genes for the enzymes and proteins involved in the transport and metabolism of fatty acids in the mitochondria. Those affected by FAOD are unable to convert fatty acids into tricarboxylic acid cycle intermediates such as acetyl-coenzyme A, resulting in decreased adenosine triphosphate and glucose for use as energy in a variety of high-energy–requiring organ systems. Signs and symptoms may manifest in infants but often also appear in adolescents or adults during times of increased metabolic demand, such as fasting, physiologic stress, and prolonged exercise. Patients with FAOD present with a highly heterogeneous clinical spectrum. The most common clinical presentations include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy, rhabdomyolysis, and skeletal myopathy, as well as peripheral neuropathy and retinopathy in some subtypes. Despite efforts to detect FAOD through newborn screening and manage patients early, symptom onset can be sudden and serious, even resulting in death. Therefore, it is critical to identify quickly and accurately the key signs and symptoms of patients with FAOD to manage metabolic decompensations and prevent serious comorbidities." @default.
• W3042163005 created "2020-07-16" @default.
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• W3042163005 date "2020-07-11" @default.
• W3042163005 modified "2023-10-18" @default.
• W3042163005 title "Clinical manifestations and management of fatty acid oxidation disorders" @default.
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• W3042163005 doi "https://doi.org/10.1007/s11154-020-09568-3" @default.
• W3042163005 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7560910" @default.
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