Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency
2024
Maximilian Penkl | Johannes A. Mayr | René G. Feichtinger | Ralf Reilmann | Otfried Debus | Manfred Fobker | Anja Penkl | Janine Reunert | Stephan Rust | Thorsten Marquardt
Citric acid cycle deficiencies are extremely rare due to their central role in energy metabolism. The <i>ACO2</i> gene encodes the mitochondrial isoform of aconitase (aconitase 2), the second enzyme of the citric acid cycle. Approximately 100 patients with aconitase 2 deficiency have been reported with a variety of symptoms, including intellectual disability, hypotonia, optic nerve atrophy, cortical atrophy, cerebellar atrophy, and seizures. In this study, a homozygous deletion in the <i>ACO2</i> gene in two brothers with reduced aconitase 2 activity in fibroblasts has been described with symptoms including truncal hypotonia, optic atrophy, hyperopia, astigmatism, and cerebellar atrophy. In an in vivo trial, triheptanoin was used to bypass the defective aconitase 2 and fill up the citric acid cycle. Motor abilities in both patients improved.
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