Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine-reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re-evaluate and update the two previously published recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus-based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE-ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE-ALDH7A1 are provided.

The Effect of Vitamin E Supplementation on Lipid Profiles and Adiponectin Levels in Obese Adolescents: A Randomized Controlled Trial.

BACKGROUND: low-grade chronic inflammation in obese individuals contributes to the development of lipid abnormality and insulin resistance. Vitamin E has antioxidant and insulin-sensitizing properties, mediated by adiponectin. In this study, we aimed to evaluate the effect of vitamin E supplementation on lipid profiles and adiponectin levels in obese adolescents. METHODS: this was a randomized, double-blind, controlled study. Obese adolescents aged 14-18 years, with no history of taking anti-obesity or antioxidant drugs, were recruited and randomized into two groups: vitamin E and placebo. The dose of vitamin E was 400 IU/day. Intervention was administered for two months. Lipid profiles and adiponectin levels were measured at baseline and after intervention. Primary outcomes were analyzed using the per-protocol analysis principle. Statistical analysis was performed using the independent t-test or the Mann-Whitney U test. RESULTS: a total of 66 subjects completed the intervention study, 34 in the vitamin E group and 32 in the placebo group. Lipid profiles and adiponectin levels at 2 months after intervention did not differ significantly between the two groups. Changes from the baseline level were also not significantly different between the two groups and were inconsistent from one subject to another. CONCLUSION: in obese adolescents, vitamin E supplementation of 400 IU/day for 2 months does not significantly affect lipid profiles and adiponectin levels.