Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

BMC Pediatrics

Volumn 14, Issue 1, 2014, Pages

  Yubero, Delia ^a   O'Callaghan, Mar ^a   Montero, Raquel ^a   Ormazabal, Aida ^a   Armstrong, Judith ^a   Espinos, Carmina ^b   Rodríguez, Maria A ^a   Jou, Cristina ^a   Castejon, Esperanza ^a   Aracil, Maria A ^a   Cascajo, Maria V ^c   Gavilan, Angela ^c   Briones, Paz ^d   Jimenez Mallebrera, Cecilia ^a   Pineda, Mercedes ^a   Navas, Plácido ^c   Artuch, Rafael ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^c CSIC   (Spain)

^d Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

Ataxia; Coenzyme Q10; Glucose transporter type I deficiency; Ketogenic diet; SLC2A1 gene

Indexed keywords

ALANINE; ETHOSUXIMIDE; LACTIC ACID; VALPROIC ACID; CATION TRANSPORT PROTEIN; GLUCOSE TRANSPORTER 1; SLC9A1 PROTEIN, HUMAN; SODIUM PROTON EXCHANGE PROTEIN; UBIDECARENONE; UBIQUINONE; VITAMIN;

ADOLESCENT; AMINO ACID BLOOD LEVEL; ARTICLE; ATAXIA; CASE REPORT; COENZYME Q10 DEFICIENCY; DYSARTHRIA; FEMALE; GLUCOSE TRANSPORTER 1 DEFICIENCY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; KETOGENIC DIET; LACTATE BLOOD LEVEL; LUMBAR PUNCTURE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NYSTAGMUS; PROTEIN DEFICIENCY; SANGER SEQUENCING; SEQUENCE ANALYSIS; SKIN BIOPSY; SPECTROPHOTOMETRY; SUPPLEMENTATION; ANALOGS AND DERIVATIVES; DEFICIENCY; DIET SUPPLEMENTATION; DIET THERAPY; GENETICS; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUTATION;

ADOLESCENT; ATAXIA; CATION TRANSPORT PROTEINS; DIETARY SUPPLEMENTS; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; KETOGENIC DIET; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUTATION; SODIUM-HYDROGEN ANTIPORTER; UBIQUINONE; VITAMINS;

EID: 84920848008     PISSN: None     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/s12887-014-0284-5     Document Type: Article

References (16)

1. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC: Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep 2013, 13:342-347.
2. Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, et al: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010, 133:655-670.
3. Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC: The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 2010, 25:275-281.
4. Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE: Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol 2012, 72:807-815.
5. De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI: Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrahchia, seizures and developmental delay. N Engl J Med 1991, 325:703-709.
6. Seidner G, Álvarez MG, Yeh JL, O'Driscoll KR, Klepper J, Stump TS, Wang D, Spinner NB, Birnbaum MJ, De Vivo DC: GLUT-I deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998, 18:188-191.
7. Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, Hertzberg C, Näke A, Voit T, Willemsen MA: Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2-to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics 2005, 36:302-308.
8. Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 2005, 57:111-118.
9. Marin-Valencia I, Good LB, Ma Q, Duarte J, Bottiglieri T, Sinton CM, Heilig CW, Pascual JM: Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Neurobiol Dis 2012, 48:92-101.
10. Marin-Valencia I, Good LB, Ma Q, Malloy CR, Pascual JM: Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain. J Cereb Blood Flow Metab 2013, 33:175-182.
11. Laredj LN, Licitra F, Puccio HM: The molecular genetics of coenzyme Q biosynthesis in health and disease. Biochimie 2013, 100C:78-87.
12. Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M: Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol 2012, 69:978-983.
13. Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R: Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up. Mov Disord 2010, 25:1262-1268.
14. Montero R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, García-Cazorla A, Navas P, Artuch R: Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes. Clin Biochem 2008, 41:697-700.
15. López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P: Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet 2007, 16:1091-1097.
16. Thorens B, Muexkler M: Glucose transporters in the 21st Century. Am J Physiol Endocrinol Metab 2010, 298:E141-E145.