Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome

Klepper, Jörg; Garcia‐Alvarez, Marcela; O’Driscoll, Kevin R.; Parides, Michael K.; Wang, Dong; Ho, Yu‐Ling; Vivo, Darryl C. De

doi:10.1002/(sici)1098-2825(1999)13:3<116::aid-jcla5>3.0.co;2-c

Cited by 82 publications

(53 citation statements)

References 20 publications

(17 reference statements)

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“…The rate of 3-O-methyl-D-glucose uptake by freshly isolated, washed erythrocytes in vitro is decreased in patients compared with controls. The assay is relatively specific and sensitive for GLUT1DS, but false negatives have been observed (27). Chronic hyperglycemic conditions, including diabetes mellitus, also may produce false positives by causing downregulation of GLUT1 receptors in tissue membranes (2).…”

Section: Laboratory Featuresmentioning

confidence: 99%

GLUT1 deficiency and other glucose transporter diseases

Pascual

Wang

Lecumberri

et al. 2004

European Journal of Endocrinology

130

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We review the three genetically determined disorders of glucose transport across cell membranes. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and De Vivo disease (GLUT1 deficiency syndrome (GLUT1DS)) arise from heritable mutations in transporter-encoding genes that impair monosaccharide uptake, which becomes rate-limiting in tissues where the transporters serve as the main glucose carrier systems. We focus in greater detail on De Vivo disease as a prototype of a brain energy failure syndrome, for which the greatest pathophysiological detail is known, but which presents the most therapeutic challenges. The study of these diseases illustrates fundamental aspects of energetic metabolism, while providing the basis for their diagnosis by simple metabolic screening and for their treatment by dietary modification.European Journal of Endocrinology 150 627-633

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Section: Laboratory Featuresmentioning

confidence: 99%

GLUT1 deficiency and other glucose transporter diseases

Pascual

Wang

Lecumberri

et al. 2004

European Journal of Endocrinology

130

View full text Add to dashboard Cite

show abstract

“…The Lowe and Walmsley techniques were modified as previously described (19). In a 4°C cold room, 100 L 14 C-labeled 3-OMG solution at the specified concentrations was added to the 50-L aliquot of the erythrocyte suspension; the assay was terminated at appropriate time points by rapid addition of 1 mL of ice-cold stop solution.…”

Section: Patient 15 (Female 8 Y)mentioning

confidence: 99%

Glucose Transporter Type 1 Deficiency Syndrome (Glut1DS): Methylxanthines Potentiate GLUT1 Haploinsufficiency In Vitro

Yang

Klepper

et al. 2001

Pediatr Res

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“…Original laboratory criteria for Glut1-DS consisted of hypoglycorrhachia (o40 mg dl À1 ), low CSF/blood glucose ratio (o0.4) and reduced erythrocyte glucose uptake (uptake cutoff point at 60% uptake). 6 After the discovery of SLC2A1 as a gene responsible for Glut1-DS, many mutations have been recognized that show autosomal dominant inheritance. However, as more cases with documented gene abnormalities of the SLC2A1 gene have been reported, atypical cases have come into light such as a case of movement disorder without Although a relative copy number of around two was observed for normal controls, the mother of the proband had a copy number of about five in exon 9-10 (b).…”

Section: Discussionmentioning

confidence: 99%

“…4 In addition, chromosomal abnormalities, such as microdeletions including the SLC2A1 gene, have also been recently reported. 5,6 Here, we report the clinicogenetic characteristics of 12 Japanese patients with Glut1-DS. Initial mutation analysis was performed by direct sequencing, and multiplex ligation-dependent probe amplification (MLPA) was subsequently performed in the remaining patients in whom no point mutation was identified.…”

Section: Introductionmentioning

confidence: 98%

SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

et al. 2011

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Glucose transporter 1 deficiency syndrome (Glut1-DS) is a congenital metabolic disorder characterized by refractory seizures with early infantile onset, developmental delay, movement disorders and acquired microcephaly. Glut1-DS is caused by heterozygous abnormalities of the SLC2A1 (Glut1) gene, whose product acts to transport glucose into the brain across the blood-brain barrier. We analyzed the SLC2A1 gene in 12 Japanese Glut1-DS patients who were diagnosed by characteristic clinical symptoms and hypoglycorrhachia as follows: all patients had infantile-onset seizures and mild to severe developmental delay, and ataxia was detected in 11 patients. For the 12 patients, we identified seven different mutations (three missense, one nonsense, two frameshift and one splice-site) in exons and exon-intron boundaries of the SLC2A1 gene by direct sequencing, of which six were novel mutations. Of the remaining five patients who had no point mutations and underwent investigation by multiplex ligation-dependent probe amplification, a complex abnormality with deletion and duplication was identified in one patient: this is the first case of such recombination of the SLC2A1 gene. Changes in regulatory sequences in the promoter region or genes other than SLC2A1 might be responsible for onset of Glut1-DS in the other four patients (33%) without SLC2A1 mutation.

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Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome

Cited by 82 publications

References 20 publications

GLUT1 deficiency and other glucose transporter diseases

GLUT1 deficiency and other glucose transporter diseases

Glucose Transporter Type 1 Deficiency Syndrome (Glut1DS): Methylxanthines Potentiate GLUT1 Haploinsufficiency In Vitro

SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

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