L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by pathogenic variants in the gene which encodes mitochondrial 2-hydroxyglutarate dehydrogenase. Here, we report a case of L2HGA in a Mexican-Mayan patient with a homozygous mutation at gene and clinical response to vitamin supplements and levocarnitine.

Case Report: A 17-year-old, right-handed female patient with long-term history of seizures, developmental delay and ataxia was referred to a movement disorders specialist for the evaluation of tremor.

Association of the polymorphisms rs179008 (), rs2004640 (), rs1800795 () and rs2280788 () with systemic lupus erythematosus in women of Mayan ethnicity from Yucatan.

IFN-α is the main cytokine in SLE, and single nucleotide polymorphisms (SNP) in different genes could induce it. To determine the association of rs2004640 (), rs179008 (), rs1800795 () and rs2280788 () with SLE in Mexican women with Mayan ethnicity. DNA and RNA were isolated from the peripheral blood of 110 patients and 200 healthy control subjects.

[G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico].

Introduction And Objectives: Cardiovascular medicine is focused on the search for genetic risk markers with predictive and/or prognostic value. Among the genetic variants of interest are G894T endothelial nitric oxide synthase and G1958A methylenetetrahydrofolate dehydrogenase1 gene polymorphisms. The aim of this study was to determine the possible association between these polymorphisms and ischemic heart disease in patients from Southern of Mexico (Yucatán).