Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile‐onset epilepsy and severe developmental delay. Non‐classical phenotypes with movement disorders and early‐onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2mmol/l) in the presence of normoglycaemia with a CSF/blood glucose ratio of less than 0.4. GLUT1DS is due to a mutation in the solute carrier family 2, member 1 gene (SLC2A1). We present five individuals (four males, one female), all of whom had a mild phenotype, highlighting the importance of considering this diagnosis in unexplained neurological disorders associated with mild learning difficulties, subtle motor delay, early‐onset absence epilepsy, fluctuating gait disorders, and/or dystonia. The mean age at diagnosis was 8 years 8 months. This paper also shows phenotypical parallels between GLUT1DS and paroxysmal exertion‐induced dyskinesia.
Summary. Treatment with dl-6-(N-\g=a\-pipecolinomethyl)-5-hydroxyindane maleate (PMHI) depressed testis weights in immature rats, mice, hamsters and guinea-pigs. Similar effects on testicular weight were observed in adult rabbits, dogs and two species of monkey. Concurrent administration of testosterone, gonadotrophins, dl-tocopherol acetate, and methionine did not prevent the testicular weight reduction induced with PMHI in the immature rat. In hypophysectomized rats, the administration of PMHI caused further significant reduction in testicular weights. These data indicate that the activity of PMHI is directly on the testis and is not mediated by way of the hypothalamus\p=m-\pituitary\p=m-\ gonadal axis.
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