Instruct: Identify the main category of Medrxiv papers based on the titles and abstracts
Query: Novel CSF biomarkers of GLUT1 deficiency syndrome: implications beyond the brain's energy deficit We used next-generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic CSF profiles from 11 patients to those of 116 controls. This confirmed decreased CSF glucose and lactate levels in patients with GLUT1DS and increased glutamine at group level. We identified three novel biomarkers significantly decreased in patients, namely gluconic + galactonic acid, xylose-1-3-glucose and xylose-1-3-xylose-1-3-glucose, of which the latter two have not previously been identified in body fluids. CSF concentrations of gluconic + galactonic acid may be reduced as these metabolites could serve as alternative substrates for the pentose phosphate pathway. Xylose-1-3-glucose and xylose-1-3-xylose-1-3-glucose may originate from O-glycosylated proteins; their decreased levels are hypothetically the consequence of insufficient glucose, one of two substrates for O-glucosylation. Since many proteins are O-glucosylated, this deficiency may affect cellular processes and thus contribute to GLUT1DS pathophysiology. The novel CSF biomarkers have the potential to improve the biochemical diagnosis of GLUT1DS. Our findings imply that brain glucose deficiency in GLUT1DS may cause disruptions at the cellular level that go beyond energy metabolism, underlining the importance of developing treatment strategies that directly target cerebral glucose uptake.
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The categories of this paper are: pain
15
The categories of this paper are: allergy
20
The categories of this paper are: psychiatry
69
The categories of this paper are: palliative
21
The categories of this paper are: psychology
72
The categories of this paper are: urology
36
The categories of this paper are: economics
34
The categories of this paper are: therapy
58
The categories of this paper are: hematology
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The categories of this paper are: surgery
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The categories of this paper are: pathology
2
The categories of this paper are: medicine
25
The categories of this paper are: improvement
33
The categories of this paper are: physical
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The categories of this paper are: pharmacology
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The categories of this paper are: geriatric