title: Glucose transporter type I deficiency causing mitochondrial dysfunction.
abstract: Mitochondrial disorders are varied in their clinical presentation and pathogenesis. Diagnosis is usually made clinically and genetic defects are often not identified. We present a 6-year-old female patient with a diagnosis of a mitochondrial disorder secondary to complex I deficiency with seizures and developmental delay from infancy. Glucose transporter deficiency was suspected after a lumbar puncture showed hypoglycorrhachia. Her disorder was confirmed genetically as a mutation in her solute carrier family 2, facilitated glucose transporter member 1 (SLCA2) gene. Delayed diagnosis led to delayed treatment, and neurologic sequelae may have been prevented by earlier recognition of this disorder.
authors.affiliation: Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX, USA.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Lankford
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Butler
authors.forename: Mary Kay
authors.initials: MK
authors.lastname: Koenig
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000134:cerebrospinal fluid / Q000150:complications* / Q000235:genetics*; D002648:Child; D002658:Developmental Disabilities / Q000134:cerebrospinal fluid / Q000150:complications / Q000235:genetics*; D005260:Female; D005947:Glucose / Q000134:cerebrospinal fluid; D051273:Glucose Transporter Type 2 / Q000172:deficiency*; D006801:Humans; D028361:Mitochondrial Diseases / Q000134:cerebrospinal fluid / Q000209:etiology* / Q000235:genetics*; D013129:Spinal Puncture
chemical_list: D051273:Glucose Transporter Type 2; D005947:Glucose