To gain more knowledge of the long-term evolution of the classic, complex phenotype of GLUT1DS, we performed a systematic review of the literature and comprehensively studied a cohort that included adult GLUT1DS patients. The vast majority of the adult GLUT1DS patients described in the literature are part of a family with a mild phenotype. Since the disorder has been recognized for only two decades and is mostly diagnosed in children, little is known about the course of this disease from infancy into adulthood. Other, often milder phenotypes are increasingly recognized and these include generalized epilepsies, paroxysmal exercise-induced dyskinesia (PED), dystonic tremor, and hemolytic anemia. The classic and complex phenotype includes intellectual disability, epilepsy, and movement disorders such as spasticity, ataxia, and dystonia. Over the last 20 years, the knowledge of the phenotypic spectrum of GLUT1DS has increased enormously. GLUT1DS can be treated with a ketogenic diet, as ketone bodies serve as alternative fuel for the brain.
GLUT1DS was first recognized in 1991 in two children with seizures, delayed development, and persistently low glucose in the cerebrospinal fluid (CSF).
GLUT1 deficiency syndrome (GLUT1DS) is a treatable genetic disorder in which glucose transport over the blood–brain barrier and within the brain is disturbed. Like children, adolescents may benefit from a ketogenic diet or variants thereof. Intellectual disability was not systematically assessed, but cognitive functions appeared to be stabile throughout life. During adolescence, however, epilepsy diminishes or even disappears, but new paroxysmal movement disorders, especially paroxysmal exercise-induced dyskinesia, either appear or worsen if already present in childhood. Our results show that epilepsy is a prominent feature during childhood in classic GLUT1DS patients. The cohort study included seven GLUT1DS patients with a complex phenotype who were prospectively followed up in our clinic from childhood into adulthood. The literature search yielded a total of 91 adult GLUT1DS patients, of which 33 patients (one-third) had a complex phenotype.
We performed a systematic literature review as well as a cohort study, including GLUT1DS patients aged 18 years and older. Our purpose was to investigate the disease course of GLUT1DS patients with the classic, complex phenotype from infancy into adulthood. Since the disorder has only been recognized for two decades and is mostly diagnosed in children, little is known about the disease course. These include, for example, idiopathic generalized epilepsy and paroxysmal exercise-induced dyskinesia. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other phenotypes are increasingly recognized. GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed.
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