Acylcarnitines profile best predicts survival in horses with atypical myopathy

Equine atypical myopathy (AM) is caused by hypoglycin A intoxication and is characterized by a high fatality rate. Predictive estimation of survival in AM horses is necessary to prevent unnecessary suffering of animals that are unlikely to survive and to focus supportive therapy on horses with a possible favourable prognosis of survival. We hypothesized that outcome may be predicted early in the course of disease based on the assumption that the acylcarnitine profile reflects the derangement of muscle energetics. We developed a statistical model to prognosticate the risk of death of diseased animals and found that estimation of outcome may be drawn from three acylcarnitines (C2, C10:2 and C18 -carnitines) with a high sensitivity and specificity. The calculation of the prognosis of survival makes it possible to distinguish the horses that will survive from those that will die despite severe signs of acute rhabdomyolysis in both groups

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.

peer reviewedBranched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by reversible phosphorylation of its E1α-subunit. BCKDK is the kinase responsible for the phosphorylation-mediated inactivation of BCKDH. In three siblings with severe developmental delays, microcephaly, autism spectrum disorder and epileptic encephalopathy, we identified a new homozygous in-frame deletion (c.999_1001delCAC; p.Thr334del) of BCKDK. Plasma and cerebrospinal fluid concentrations of BCAA were markedly reduced. Hyperactivity of BCKDH and over-consumption of BCAA were demonstrated by functional tests in cells transfected with the mutant BCKDK. Treatment with pharmacological doses of BCAA allowed the restoring of BCAA concentrations and greatly improved seizure control. Behavioral and developmental skills of the patients improved to a lesser extent. Importantly, a retrospective review of the newborn screening results allowed the identification of a strong decrease in BCAA concentrations on dried blood spots, suggesting that BCKDK is a new treatable metabolic disorder probably amenable to newborn screening programs

Vivra, ne vivra pas ? Comment définir le pronostic de survie des cas de myopathie atypique ?

peer reviewedObjectif – Établir un pronostic de survie sur base du profil sanguin des acylcarnitines en postulant que celui-ci reflète le niveau de perturbation de la β-oxydation mitochondriale

Comment confirmer le diagnostic de myopathie atypique ?

National audienc

Comment confirmer le diagnostic de myopathie atypique ?

National audienc

Point sur les outils diagnostiques et pronostiques de la myopathie atypique

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Atypical myopathy: the top 10 latest news

Cet écrit reprend le top 10 des dernières nouvelles relatives à la myopathie atypique dont certaines ne sont pas encore publiées.SAMA(RE

La myopathie atypique: le top 10 des dernières nouvelles

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Maladies métaboliques - Point sur les outils diagnostiques et pronostiques de la myopathie atypique

National audienc

La myopathie atypique : le top 10 des dernières nouvelles

National audienc