Related Experiment Video
Updated: Jun 3, 2026
10:27
Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
GLUT1 deficiency syndrome in clinical practice
1Childrens' Hospital Aschaffenburg, Am Hasenkopf, D-63739 Aschaffenburg, Germany. joerg.klepper@klinikum-aschaffenburg.de
Epilepsy Research
|March 9, 2011
Summary
Glucose transporter type 1 deficiency syndrome (GLUT1DS) impairs brain glucose transport, but ketogenic diets offer effective treatment. This review examines current diagnostic and therapeutic strategies for GLUT1DS, considering recent advancements.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Glucose transporter type 1 deficiency syndrome (GLUT1DS) results from impaired glucose transport to the brain.
- Ketogenic diets are an effective treatment for GLUT1DS.
- Diagnosis can be challenging due to complex symptoms, hypoglycorrhachia cut-offs, and genetic variations.
Purpose of the Study:
- To review the current diagnostic and therapeutic approaches for GLUT1DS.
- To discuss challenges in diagnosing GLUT1DS.
- To explore alternative ketogenic diets, their side effects, and novel treatments like alpha-lipoic acid and triheptanoin.
Main Methods:
- Literature review of current diagnostic and therapeutic strategies for GLUT1DS.
- Analysis of recent developments in GLUT1DS management.
- Discussion of challenges and emerging treatments.
Main Results:
- Diagnosis of GLUT1DS presents challenges in clinical practice.
- Various ketogenic diet strategies and novel compounds are being investigated for GLUT1DS treatment.
- Long-term side effects of alternative treatments require consideration.
Conclusions:
- Accurate diagnosis of GLUT1DS is crucial for effective management.
- Ongoing research is refining therapeutic options for GLUT1DS.
- A comprehensive understanding of diagnostic and treatment advancements is essential for clinicians.
Related Concept Videos
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:19Type I Diabetes III: Clinical Manifestations
Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:15Hypoglycemia and Glucagon
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
01:12Type I Diabetes I: Introduction
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
01:29Hyperglycemia
Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose levels exceed 180 mg/dL two...