Glucose transporter type 1 deficiency: Ketogenic diet in three patients with atypical phenotype

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• 作者：Pierangelo Veggiotti ; Federica Teutonico ; Enrico Alfei ; Nardo Nardocci ; Giovanna Zorzi ; Anna Tagliabue ; Valentina De Giorgis ; Umberto Balottin
• 关键词：Ketogenic diet ; GLUT-1 ; GLUT-1 DS ; Paroxysmal movement disorder ; EEG and Seizures
• 刊名：Brain and Development
• 出版年：2010
• 出版时间：May 2010
• 年：2010
• 卷：32
• 期：5
• 页码：404-408
• 全文大小：247 K

文摘

Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GLUT-1 gene mutation on chromosome 1. The classic phenotype is a severe form of early onset epileptic encephalopathy, but patient with different clinical presentation have been reported expanding the clinical spectrum. In particular, many patients show a prominent movement disorder other than epilepsy. It is known that this disease represents a treatable condition and ketogenic diet (KD) is the elective treatment in GLUT-1 DS patients. We report on KD in three unrelated Italian GLUT-1 DS female patients, diagnosed in early adulthood, all presenting with an atypical phenotype. Preliminary results seem to demonstrate efficacy of KD on paroxysmal movement disorder while positive effect on cognitive impairment result less evident.