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A Treatable GLUT1 Energy Failure Syndrome

Belén Pérez-Dueñas, MD, PhD; Catherina Prior, MD; Qian Ma, MD, PhD; Emilio Fernández-Álvarez, MD, PhD; Xavier Setoain, MD; Rafael Artuch, MD, PhD; Juan M. Pascual, MD, PhD

Arch Neurol. 2009;66(11):1410-1414.

Objective  To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly.

Design  Case report.

Setting  Two academic medical centers.

Patient  A 7-year-old patient followed up for 4 years.

Results  The patient exhibited a predominant syndrome of chorea and mental retardation associated with a combination of paroxysmal ataxia, dysarthria, dystonia and aggravated intellectual disability induced by fasting or exertion. She harbored a sporadic, heterozygous amino acid insertion in the GLUT1 transporter (insY292) that, in all likelihood, impaired blood-brain glucose flux. Her brain configuration appeared hypotrophic via magnetic resonance imaging, particularly over the occipital lobes. A ketogenic diet resulted in brain growth that accompanied a favorable symptomatic outcome.

Conclusions  To date, glucose transporter type 1 deficiency syndrome includes several epileptic and movement disorder phenotypes caused by the clinical expressivity of the prominent cortical, basal ganglia, and cerebellar abnormalities found in the disease, but hypomorphic or novel variants are probably yet to be discovered.

Author Affiliations: Departments of Neurology (Drs Pérez-Dueñas, Prior, Fernández-Álvarez) and Clinical Biochemistry, Hospital Universitari Sant Joan de Déu, Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III (Dr Artuch), and Department of Nuclear Medicine, Hospital Clínic, (Dr Setoain) Barcelona, Spain; and Departments of Neurology (Drs Ma and Pascual), Physiology, and Pediatrics (Dr Pascual), The University of Texas Southwestern Medical Center, Dallas.

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