期刊
ANNALS OF NEUROLOGY
卷 57, 期 1, 页码 111-118出版社
WILEY
DOI: 10.1002/ana.20331
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资金
- NCRR NIH HHS [RR 00645] Funding Source: Medline
- NINDS NIH HHS [NS 01698, NS 37949] Funding Source: Medline
- NATIONAL CENTER FOR RESEARCH RESOURCES [M01RR000645] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [K12NS001698, R01NS037949] Funding Source: NIH RePORTER
Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity ataxia, and hypoglycorrhachia. We studied 16 new Glut-1 deficiency syndrome patients focusing on clinical and laboratory features, molecular genetics, genotype-phenotype correlation, and treatment. These patients were classified phenotypically into three groups. The mean cerebrospinal fluid glucose concentration was 33.1 +/- 4.9mg/dl equal to 37% of the simultaneous blood glucose concentration. The mean cerebrospinal fluid lactate concentration was 1.0 +/- 0.3mM, which was less than the normal mean value of 1.63mM. The mean V-max for the 3-O-methyl-D-glucose uptake into enthrocytes was 996 fmol/10(6) red blood cells per second, significantly less (54 +/- 11%; t test, P < 0.05) than the mean control value of 1,847. The mean Km value for the patient group (1.4 +/- 0.5mM) was similar to the control group (1.7 +/- 0.5mM; t test, p > 0.05). We identified 16 rearrangements, including seven missense, one nonsense, one insertion, and seven deletion mutations. Fourteen were novel mutations. There were no obvious correlations between phenotype, genotype, or biochemical measures. The ketogenic diet produced good seizure control.
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