Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

Background And Objective: GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes a wide range of neurologic symptoms in children and adults. However, its diagnosis relies on an invasive test, that is, a lumbar puncture (LP) to measure glycorrhachia, and sometimes complex molecular analyses of the gene. This procedure limits the number of patients able to receive the standard of care.

Headgroup effects on the unusual lamellar-lamellar coexistence and vesicle-to-micelle transition of salt-free catanionic amphiphiles.

Salt-free ion-paired catanionic amphiphiles of the C(m)(+)C(n)(-) type, with a high solubility mismatch (n >> m or m >> n) display a remarkable phase behavior in water. A temperature-driven vesicle-to-micelle transition in the dilute side together with a coexistence of two lamellar phases on the concentrated side is one of the peculiar effects that have been reported for the hexadecyltrimethylammonium octylsulfonate surfactant, C(16)C(8) or TA(16)So(8) (extensive to C(14)C(8) and C(12)C(8)). In this work, with TA(16)So(8) as a reference, the cationic trimethylammonium (TA(+)) and pyridinium (P(+)) headgroups are combined with the anionic sulfate (S(-)) and sulfonate (So(-)) headgroups to yield other C(16)C(8) compounds: hexadecyltrimethylammonium octylsulfate (TA(16)S(8)), 1-hexadecylpyridinium octylsulfonate (P(16)So(8)), and 1-hexadecylpyridinium octylsulfate (P(16)S(8)).