Improving diagnosis of mitochondrial fatty-acid oxidation disorders

Le résumé fourni par la source

Mitochondrial Fatty Acid Oxidation Disorders (FAOD, Table 1 , Fig. 1 ) include 12 genetically distinct metabolic disorders, inherited as an autosomal recessive trait, with an estimated cumulative incidence from 1:6,500 to 1:110,000 [ 1 ]. Their clinical presentation ranges from fatal acute hypoglycaemic crises in neonates to less severe later onset conditions characterised by myalgia and exercise intolerance. Symptoms differ for each, and phenotypic diversity extends even to patients bearing identical genetic variants [ 2 ]. In the most severe cases, neonatal presentation includes recurrent episodes of hypoketotic hypoglycaemic encephalopathy, liver dysfunction, often cardiac dysfunction, and sometimes congenital malformations. Therefore, it is important to rapidly implement emergency protocols for the acute management of metabolic crises [ 3 ].

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