fatty acid oxidation disorder(English)

• inborn error of metabolism (autosomal recessive) due to disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The presentation depends upon the specific disorder, but common elements may be seen, and ultimately require a similar treatment. Presentations in the neonatal period with severe symptoms include cardiomyopathy, while during infancy and childhood liver dysfunction and hypoketotic hypoglycemia are common. Episodic rhabdomyolysis is frequently the initial presentation during or after adolescence. Treatment includes avoidance of fasting, aggressive therapy during illness, and supplementation of carnitine, if necessary
• DHA, NBS
• Congenital disorders, Metabolism
• https://doi.org…/atm.2018.10.57