Chemical Origin And Impact Of Glut1 Deficiency Syndrome

1164 WordsApr 18, 20175 Pages
Glucose Transporter-1 (GLUT1) Deficiency Syndrome is a relatively novel disorder. Studies highlighting the biological origin and impact of GLUT1 Deficiency have only recently been conducted, the disorder was first described by Dr. De Vivo in 1991 (Aktas et al., 2010; De Vivo, Leary, & Wang, 2002). Although rare, there have been studies conducted highlighting the causes and impact of the syndrome. Wilhelmina Leen, one of the authors of An Analysis of Glucose Transporter 1, collected genetic data from fifty-seven different patients that suffer from GLUT-1 Deficiency Syndrome. Leen as well as her co-authors work have opened new insights into better understanding the source as well as treatments for GLUT1 Deficiency syndrome. However, to…show more content…
An individual can be diagnosed with GLUT1 deficiency using multiple tools to deduce its presence. The primary testing for GLUT1 deficiency is through measurement of glucose and lactate concentration in the cerebrospinal fluid. Low levels of glucose and lactate in the fluid indicate the onset of the disease (Suls et al., 2009). Most of the phenotypic abnormalities can be treated or reduced utilizing a ketogenic diet. Since ketone bodies utilize a different transporter to facilitate the movement of nutrients they can supply the brain with a viable fat-derived source of energy which ultimately can reduce the onset of epilepsy (Leen et al., 2010). Mutation Analysis An analysis of fifty-seven patients with GLUT1 deficiency syndrome was conducted by Leen and associates and seventeen different missense mutations of SLC2A1 were discovered. Of the seventeen mutations, a single nucleotide of adenine in the third helix domain of the SLC2A1 gene was substituted with a guanine. This missense mutation found on the 286th base pair caused the codon to generate the amino acid valine rather than methionine as seen on figure 2. This single missense mutation caused the classic phenotype expression of epilepsy in patient three, an 8-year-old female child. Two other patients in the study had a mutation in the third helix in the transmembrane portion of the protein, however their SLC2A1 gene contained a deletion rather than a missense

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