Evidence map›Paper›PMID 42866210›Full record

ArticleTranslational pediatrics2026

Clinical characteristics and treatment analysis of children with glucose transporter type 1 deficiency syndrome: a report of two cases.

Menglu Cao, Bingbing Zhang, Xiao Xiao, Fangfang Cheng, Jianmei Tian

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Menglu CaoThe Infectious Diseases Department, Children's Hospital of Soochow University, Suzhou, China.
Bingbing ZhangThe Neurology Department, Children's Hospital of Soochow University, Suzhou, China.
Xiao XiaoThe Neurology Department, Children's Hospital of Soochow University, Suzhou, China.
Fangfang ChengThe Infectious Diseases Department, Children's Hospital of Soochow University, Suzhou, China.
Jianmei TianThe Infectious Diseases Department, Children's Hospital of Soochow University, Suzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the Case Description: We report two pediatric cases that presented with early-onset drug-resistant epilepsy, ataxia, and developmental delay. Case 1 presented with refractory epilepsy that was poorly responsive to antiseizure medications. Cerebrospinal fluid (CSF) analysis revealed hypoglycorrhachia (CSF glucose: 2.17 mmol/L; CSF-to-blood glucose ratio: 0.388). Genetic testing identified a heterozygous Conclusions: A decreased CSF glucose level and a low CSF-to-blood glucose ratio are key diagnostic clues for GLUT1-DS. Early initiation of a KD yielded favorable short-term clinical outcomes in both cases, highlighting the importance of prompt metabolic and genetic screening.

Indexed as

case reportepilepsyGlucose transporter type 1 deficiency syndrome (GLUT1-DS)ketogenic diet (KD)SLC2A1

Identifiers

PMID42866210
PMCPMC13655861

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.