Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease

Pediatric Neurology
Juan M Pascual, Gabriel M Ronen

Abstract

As is often the case for rare diseases, the number of published reviews and case reports of glucose transporter type I deficiency (G1D) approaches or exceeds that of original research. This can indicate medical interest, but also scientific stagnation. In assessing this state of affairs here, we focus not on what is peculiar or disparate about G1D, but on the assumptions that have reigned thus far undisputed, and critique them as a potential impediment to progress. To summarize the most common G1D phenotype, we trace the 25-year story of G1D in parallel with the natural history of one of two index patients, identified in 1990 by one of us (G.M.R.) and brought up to date by the other (J.M.P.) while later examining widely repeated but little-scrutinized statements. Among them are those that pertain to assumptions about brain fuels; energy failure; cerebrospinal glucose concentration; the purpose of ketogenic diet; the role of the defective blood-brain barrier; genotype-phenotype correlations; a bewildering array of phenotypes; ictogenesis, seizures, and the electroencephalograph; the use of mice to model the disorder; and what treatments may and may not be expected to accomplish. We reach the forgone conclusion that the proper st...Continue Reading

Associated Clinical Trials

References

Jan 1, 1975·Annual Review of Medicine·E A BrunnerM L Berman
Mar 1, 1979·The British Journal of Ophthalmology·C S Hoyt, F A Billson
Apr 1, 1978·Annals of Neurology·D C DeVivoD B McDougal
Apr 17, 1990·Biochemistry·A H FromK Uğurbil
Oct 1, 1987·Annals of Neurology·H T ChuganiJ C Mazziotta
Aug 1, 1969·Archives of Neurology·J K Penry, F E Dreifuss
Oct 1, 1967·The Journal of Clinical Investigation·O E OwenG F Cahill
Jan 1, 1984·Acta Neuropathologica·R N AuerB K Siesjö
Jan 1, 1995·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·G F MasonE J Novotny
Oct 25, 1994·Proceedings of the National Academy of Sciences of the United States of America·L Pellerin, P J Magistretti
Mar 1, 1996·Neurochemistry International·R J Forsyth
Sep 23, 1997·Glia·C GiaumeJ M Medina
Oct 21, 1998·Developmental Neuroscience·S J VannucciI A Simpson
Aug 31, 1999·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·P J Magistretti, L Pellerin
Dec 10, 1999·Pediatric Research·J KlepperD C De Vivo
Jul 14, 2000·The Journal of Urology·S KielbG J Faerber
Feb 24, 2001·Annals of Neurology·E Berry-KravisL A Valentino
Mar 22, 2001·Proceedings of the National Academy of Sciences of the United States of America·D A GusnardM E Raichle
Apr 27, 2001·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·N CholetG Bonvento
May 2, 2001·Nature Reviews. Genetics·J SmeitinkS DiMauro
Sep 29, 2001·Journal of Child Neurology·W A StewartP Camfield
May 22, 2002·Neurochemistry International·Rolf Gruetter
Sep 27, 2002·Annals of Neurology·Juan M PascualDarryl C De Vivo
Dec 16, 2003·Proceedings of the National Academy of Sciences of the United States of America·Charles W HeiligDavid Conner
Feb 11, 2004·Prostaglandins, Leukotrienes, and Essential Fatty Acids·Astrid Nehlig
Feb 11, 2004·Prostaglandins, Leukotrienes, and Essential Fatty Acids·Manuel Guzmán, Cristina Blázquez
May 11, 2004·European Journal of Endocrinology·Juan M PascualDarryl C De Vivo
Sep 10, 2004·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Astrid NehligChang Dao Lam
Dec 29, 2004·Annals of Neurology·Dong WangDarryl C De Vivo
Apr 6, 2005·Proceedings of the National Academy of Sciences of the United States of America·Anant B PatelKevin L Behar
May 13, 2005·Neurochemistry International·Marc YudkoffItzhak Nissim
Sep 9, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Jennifer R L FriedmanMarvin R Natowicz
Feb 25, 2006·Human Molecular Genetics·Dong WangDarryl C De Vivo
May 18, 2006·American Journal of Physiology. Endocrinology and Metabolism·Renée P KinmanHenri Brunengraber
Jun 10, 2006·Journal of Inherited Metabolic Disease·Henri Brunengraber, Charles R Roe
Jun 21, 2006·Expert Review of Neurotherapeutics·Ewa Posner
Aug 18, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Shu-Ling LiangDouglas A Coulter
Feb 14, 2007·Archives of Neurology·Juan M PascualDarryl C De Vivo
Feb 17, 2007·Journal of Neuroscience Research·Eiliv BrennerAstrid Nehlig
Apr 19, 2007·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Golam M I ChowdhuryKevin L Behar

❮ Previous
Next ❯

Citations

Jan 25, 2016·Seizure : the Journal of the British Epilepsy Association·Hannah R KassEric H Kossoff
Jun 13, 2019·Current Neurology and Neuroscience Reports·Zheyu XuEng-King Tan
Aug 30, 2019·Annals of Clinical and Translational Neurology·Maoxue TangUmrao R Monani
Oct 28, 2019·Archives of Disease in Childhood. Education and Practice Edition·Emily PetleyWilliam P Whitehouse
Aug 14, 2020·Pflügers Archiv : European journal of physiology·Hermann Koepsell
Feb 20, 2020·Movement Disorders Clinical Practice·Serena GalosiVincenzo Leuzzi
Aug 11, 2020·Epilepsia·Sanjay M Sisodiya
Aug 18, 2020·Neurology. Genetics·Matt HenryRamiro S Maldonado

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Brain Barrier

The blood brain barrier is a border that separates blood from cerebrospinal fluid. Discover the latest search on this highly selective semipermeable membrane here.

Blood Brain Barrier Regulation in Health & Disease

The blood brain barrier is essential in regulating the movement of molecules and substances in and out of the brain. Disruption to the blood brain barrier and changes in permeability allow pathogens and inflammatory molecules to cross the barrier and may play a part in the pathogenesis of neurodegenerative disorders. Here is the latest research in this field.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Blood-Brain Barrier Transport in Neurodegeneration

The blood brain barrier is important for regulating the movement of biomolecules in and out of the brain. For example, membrane transporters in the blood brain barrier can be essential for regulating drug movement and dysregulation of these processes may play a role in neurodegeneration. This feed follows the latest research on this topic.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Astrocytes

Astrocytes are glial cells that support the blood-brain barrier, facilitate neurotransmission, provide nutrients to neurons, and help repair damaged nervous tissues. Here is the latest research.

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.

Barrel cortex

Here is the latest research on barrel cortex, a region of somatosensory and motor corticies in the brain, which are used by animals that rely on whiskers for world exploration.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis

Blood Brain Barrier Chips

The blood brain barrier (BBB) is comprised of endothelial cells that regulate the influx and outflux of plasma concentrations. Lab-on-a-chip devices allow scientists to model diseases and mechanisms such as the passage of therapeutic antibodies across the BBB. Discover the latest research on BBB chips here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Aphasia

Aphasia affects the ability to process language, including formulation and comprehension of language and speech, as well as the ability to read or write. Here is the latest research on aphasia.