Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51462
Abstract: Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood-brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug-resistant metabolic epilepsy due… read more here.
Keywords: deficiency syndrome; deficiency; treatment glut1; glut1 deficiency ... See more keywords
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12554
Abstract: 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 cerebrospinal fluid (CSF) profiles from 12 patients to those of… read more here.
Keywords: deficiency syndrome; xylose; glucose transporter; transporter type ... See more keywords
Integrated GC-MS and UHPLC-MS renal metabolomics and lipidomics deciphered the metabolic regulation mechanism of Gushudan on kidney-yang-deficiency-syndrome rats.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of separation science"
DOI: 10.1002/jssc.202300124
Abstract: Kidney-yang-deficiency-syndrome is a neuroendocrine disease caused by the dysfunction of adrenal-pituitary-target gland axis. Gushudan is a traditional Chinese medicine prescription with functions of tonifying kidney and strengthening bone, and its bone-strengthening effect has been confirmed… read more here.
Keywords: deficiency syndrome; kidney; gushudan; yang deficiency ... See more keywords
Dopamine Transporter Deficiency Syndrome: A Case with Hyper‐ and Hypokinetic Extremes
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13064
Abstract: Dopamine transporter deficiency syndrome (DTDS) is a rare genetic disorder caused by variants of the SLC6A3 gene encoding the human dopamine transporter (DAT). The disease has 2 phenotypes: classic and atypical DTDS. Classic DTDS usually… read more here.
Keywords: transporter deficiency; dtds; deficiency syndrome; dopamine transporter ... See more keywords
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09280-6
Abstract: Glucose transporter type 1 deficiency syndrome (Glut1 DS) is a rare neurological disorder caused by impaired glucose delivery to the brain. The clinical spectrum of Glut1 DS mainly includes epilepsy, paroxysmal dyskinesia (PD), developmental delay… read more here.
Keywords: epilepsy; deficiency syndrome; screening slc2a1; identification ... See more keywords
Testosterone deficiency syndrome: Diagnosis and treatment.
Sign Up to like & getrecommendations! Published in 2020 at "Actas urologicas espanolas"
DOI: 10.1016/j.acuro.2019.10.009
Abstract: The testosterone deficiency syndrome (TDS) is a very common clinical and biochemical condition that affects approximately 2-5% men over the age of 40. From a clinical point of view, it is usually associated with decreased… read more here.
Keywords: diagnosis; treatment; testosterone; testosterone deficiency ... See more keywords
Novel mutation in a patient with late onset GLUT1 deficiency syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Brain and Development"
DOI: 10.1016/j.braindev.2016.11.007
Abstract: Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs… read more here.
Keywords: late onset; patient late; deficiency syndrome; onset glut1 ... See more keywords
Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.05.008
Abstract: In some patients with GLUT1 deficiency syndrome (GLUT1-DS), the diagnosis can be difficult to reach. We report a child with 2 inherited mutations suggesting an autosomal recessive transmission of SLC2A1 mutations. METHODS The child and… read more here.
Keywords: deficiency syndrome; inherited mutations; glucose uptake; glut1 deficiency ... See more keywords
Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.05.010
Abstract: BACKGROUND The clinical spectrum of glucose transporter type 1 deficiency syndrome (GLUT1DS) has broadened, with increasing recognition of a milder phenotype. Antibodies targeting the subunits of glutamate receptors (GluRs), including GluN1, GluN2B, and GluD2, have… read more here.
Keywords: glucose transporter; deficiency syndrome; glutamate receptors; type deficiency ... See more keywords
1H NMR studies on serum metabonomic changes over time in a kidney-Yang deficiency syndrome model
Sign Up to like & getrecommendations! Published in 2017 at "RSC Advances"
DOI: 10.1039/c7ra04057a
Abstract: The central aim of this study was to investigate metabolite changes in metabolic pathways via metabonomic approaches in rats suffering from Kidney-Yang Deficiency Syndrome (KYDS) induced by hydrocortisone. Metabonomic analysis using 1H NMR is a… read more here.
Keywords: kidney yang; metabolism; time; deficiency syndrome ... See more keywords
Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Neuropediatrics"
DOI: 10.1055/s-0041-1736179
Abstract: Glucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of… read more here.
Keywords: glucose transporter; disorder; sleep disorder; deficiency syndrome ... See more keywords