Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
(2017) Journal of Inherited Metabolic Disease — Vol. 40, n° 3, p. 415-422 (2017)
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- Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormalities without ketoacidotic events in two T2-deficient families. We hypothesized that the neurological signs were related to the genetic defect and may occur independently of ketoacidotic episodes. We therefore conducted a retrospective review on a French T2-deficient patient series searching for neuromotor impairment.
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Paquay, S., Bourillon, A., Pichard, S., Benoist, J.-F., de Lonlay, P., Dobbelaere, D., Fouilhoux, A., Guffon, N., Rouvet, I., Labarthe, F., Mention, K., Touati, G., Valayannopoulos, V., Ogier de Baulny, H., Elmaleh-Bergès, M., Acquaviva-Bourdain, C., Vianey-Saban, C., & Schiff, M. (2017). Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. Journal of Inherited Metabolic Disease, 40(3), 415-422. https://doi.org/10.1007/s10545-017-0021-y (Original work published 2017)