Abstract：
OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RESULTS:Among 39 patients whose diagnosis was confirmed molecularly or by the 3-O-methylglucose uptake assay, 31 were treated with KDs for longer than 1month. Seventeen patients (55%) were on the modified Atkins diet, 11 (35%) were on the classic KD, and 3 were on the medium-chain triglyceride (MCT) diet. The median values and ranges of serum β-hydroxybutyrate levels in patients on the modified Atkins diet, classic KD and MCT diet were 2.5mM (0.75-4.1), 1.7mM (0.23-3.5) and 2.6mM (1.5-3.0), respectively. The KDs were effective on seizures (80%), aggravation after fasting (80%) and ataxia (79%). Thus, ataxia was as responsive as seizures. Two patients on the classic KD with a ketogenic ratio as low as 1:1 showed improvement in neurological symptoms. The development or intelligence quotient measured using the same psychological scales before and after the KDs in 9 patients did not show a significant improvement; the median quotients before and after the diets were 40 (12-91) and 46 (12-67). CONCLUSION:The KDs were most effective on seizures, transient aggravation after fasting and ataxia. The efficacy on intellectual development was equivocal. The modified Atkins diet was more commonly used for GLUT1DS in this study, and its ketogenicity was equivalent to the classic KD.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni Hdoi
10.1016/j.braindev.2016.01.002subject
Has Abstractpub_date
2016-08-01 00:00:00pages
628-37issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(16)00004-8journal_volume
38pub_type
杂志文章abstract：:A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80154-9
更新日期：1992-09-01 00:00:00
abstract：:A 9-year-old female MELAS patient with myoclonus is reported, with emphasis on the results of electrophysiological studies of the myoclonus. At age 5 years she experienced a stroke-like episode, and a diagnosis of MELAS was made at age 6 years on the basis of muscle biopsy findings. At age 9 years spontaneous and segm...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80244-0
更新日期：1992-07-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00021-7
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journal_title：Brain & development
pub_type： 杂志文章,评审
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更新日期：2003-10-01 00:00:00
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journal_title：Brain & development
pub_type： 临床试验,杂志文章,多中心研究
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更新日期：2010-03-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00085-6
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journal_title：Brain & development
pub_type： 杂志文章,评审
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更新日期：1989-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80009-5
更新日期：1981-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80123-9
更新日期：1991-01-01 00:00:00
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pub_type： 杂志文章
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更新日期：2012-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.07.002
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.003
更新日期：2010-09-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00045-5
更新日期：1999-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80058-4
更新日期：1986-01-01 00:00:00
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journal_title：Brain & development
pub_type：
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更新日期：2021-01-15 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.003
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journal_title：Brain & development
pub_type： 杂志文章
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.04.002
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pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00155-9
更新日期：2003-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.10.007
更新日期：2005-11-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00074-l
更新日期：1995-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80170-7
更新日期：1990-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.003
更新日期：2018-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80133-1
更新日期：1991-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.11.002
更新日期：2012-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.04.003
更新日期：2006-01-01 00:00:00
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journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.07.016
更新日期：2021-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.04.002
更新日期：2013-01-01 00:00:00
