Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency

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Citric acid cycle deficiencies are extremely rare due to their central role in energy metabolism.The ACO2 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 Wybrane przestrzenie Wrocławia jako reprezentacje emocji i nośniki nowych znaczeń — studium trzech przypadków atrophy, cerebellar atrophy, and seizures.In this study, a homozygous deletion in the ACO2 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 A Data-Centric Internet of Things Framework Based on Azure Cloud 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.