Abstract：
:Nonketotic hyperglycinemia (NKH) is a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme. Classically, patients present with lethargy, hypotonia, myoclonic jerks, transient respiratory depression in the first week of life and often progress to death. Surviving infants have profound psychomotor retardation, refractory epilepsy and poor quality of life. Currently, no effective therapeutic avenues exist for severe NKH. Ketogenic diet (KD) has been trialled only in a small group of patients with neonatal NKH and early myoclonic encephalopathy, in whom significant improvements in seizure control were reported. We describe an infant with classical neonatal NKH who presented on the third day of life with hypotonia, poor feeding, respiratory insufficiency resulting in ventilatory support and seizures with burst-suppression pattern on electroencephalogram (EEG). KD initiated at age 6 months for intractable seizures, lead to a dramatic decrease in seizure frequency, EEG improvements, normalisation of plasma glycine levels, reduced spasticity and improved quality of life. KD may be a valuable treatment modality for refractory seizure control in classical NKH.
journal_name
Eur J Clin Nutrjournal_title
European journal of clinical nutritionauthors
Kava MP,Robertson A,Greed L,Balasubramaniam Sdoi
10.1038/s41430-018-0286-8subject
Has Abstractpub_date
2019-06-01 00:00:00pages
961-965issue
6eissn
0954-3007issn
1476-5640pii
10.1038/s41430-018-0286-8journal_volume
73pub_type
杂志文章abstract：OBJECTIVES:Swedish Obese Subjects (SOS) is a multidisciplinary project involving aspects of obesity ranging from description of the severely obese state to effects of surgical intervention on long-term mortality and morbidity. Dietary studies, which represent an integral part of SOS research activities, are the focus o...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,评审
doi：10.1038/sj.ejcn.1600567
更新日期：1998-05-01 00:00:00
abstract：OBJECTIVE:To compile curves for Body Mass Index (BMI) for Italian children and adolescents. DESIGN:Cross sectional study. SETTING:All primary and secondary schools of Verona, Italy between October 1986 and January 1987. SUBJECTS:20,796 males and 21,073 females children, aged 3-19 y. METHODS:Weight and height were m...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/sj.ejcn.1600326
更新日期：1997-01-01 00:00:00
abstract：OBJECTIVE:To assess the carotenoid status in young type I diabetic patients and its relationship to the glycaemic control of the disease. DESIGN:A follow-up study. SETTING:Hospital Universitario Puerta de Hierro, Health Area VI of Madrid (Spain). SUBJECTS:Forty-seven type I diabetic patients, followed for 2.5 years....
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/sj.ejcn.1602411
更新日期：2006-08-01 00:00:00
abstract：OBJECTIVE:These two studies compared the subjective assessment of how filling a snack type would be, with actual consumption of that type of snack at a snack meal. DESIGN:Four snack types: savory high-fat, savory high-carbohydrate, sweet high-carbohydrate, each comprising of five food items, were used. Study 1 consist...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：
更新日期：1996-12-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:The available evidence from randomised controlled trials suggests that vitamin B12 supplementation does not improve neurologic function in older people with marginal but not deficient Vitamin B12 status. This secondary analysis used data from the Older People and Enhanced Neurological function (OP...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1038/ejcn.2017.7
更新日期：2017-10-01 00:00:00
abstract：OBJECTIVE:We have measured urea kinetics in normal adult men and women of different body composition to determine whether adiposity is associated with differences in the rate of urea production or endogenous urea hydrolysis. DESIGN:Urea kinetics were determined from the excretion of [15N15N]urea in urine over a period...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/sj.ejcn.1600373
更新日期：1997-02-01 00:00:00
abstract：:The application of molecular biology and genetics in the field of cholesterol and lipoprotein metabolism has resulted in a tremendous expansion of knowledge during the past decade. In this short review, the normal metabolism of lipoproteins is first discussed briefly, and several clinically important examples of genet...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,评审
doi：
更新日期：1992-03-01 00:00:00
abstract：BACKGROUND:Body composition parameters are linked to cardio-metabolic risk. However, high-quality reference values of body composition are scarce, particularly in Asian population. The aim of study was to construct sex- and age-specific normative reference values of body composition for the Vietnamese population. METH...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/s41430-020-00840-y
更新日期：2021-01-18 00:00:00
abstract：:Some studies on energy metabolism of men and women in Third World countries suggested that their basal metabolic rate (BMR) is lower compared to BMRs of people in Northern European and American countries. It is, however, not clear whether this results from ethnic factors, climate or adaptation to, for instance, a low ...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：
更新日期：1988-12-01 00:00:00
abstract：BACKGROUND:Mediterranean diets are felt to be healthful diets linked with reduced mortality from diet-related noncommunicable diseases. OBJECTIVE:To examine trends in diet, activity, obesity and diet-related noncommunicable diseases for Spain and compare these with other European countries, particularly those from the...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/sj.ejcn.1601414
更新日期：2002-10-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:Healthy eating advice is informed, in part, by dietary surveys that rely on self-reported data. Misreporting of food intake may distort relationships between diet and health outcomes. This study directly quantified the food groups that were under-reported or over-reported in common dietary assessm...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/s41430-018-0199-6
更新日期：2018-07-01 00:00:00
abstract：:In this issue we would like to thank all those listed below for taking the time to review for the European Journal of Clinical Nutrition in 2019-your generosity is much appreciated and we hope your association with the journal continues in the future. ...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/s41430-020-0589-4
更新日期：2020-03-01 00:00:00
abstract：:The paper reviews the evidence to date on the nutritional links with productivity and then goes on to provide results from a multi-country study on the effects of increasing body mass index (BMI) on productivity. The research relating nutritional status to work capacity is more consistent than the research linking nut...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,多中心研究,评审
doi：
更新日期：1994-11-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:The aims were to investigate the association of maternal pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) with breastfeeding (BF) duration and BF pattern at 3 months of age. SUBJECTS/METHODS:This was a prospective cohort study of 4231 children who were enrolled at birth and w...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/ejcn.2015.232
更新日期：2016-04-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:Overfeeding in critically ill patients is associated with many complications. Propofol, dextrose infusion and citrate dialysis provide non-nutritional calories (NNCs), potentially causing overfeeding. The relevance of NNCs for total caloric intake has not been systematically studied. SUBJECTS/MET...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/ejcn.2016.167
更新日期：2016-12-01 00:00:00
abstract：OBJECTIVE:We hypothesized that very low birth weight (VLBW) infants have reduced serum and red blood cell (RBC) selenium (Se) at birth, which decrease further with current nutrition and are associated with chronic lung disease and septicaemia. DESIGN:We studied Se intake, concentration in serum and RBCs and glutathion...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/sj.ejcn.1602715
更新日期：2008-03-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:B vitamins and related enzymes involved in one-carbon metabolism are necessary for DNA replication, DNA repair and regulation of gene expression. Disruption of one-carbon mechanism may affect cancer risk. We investigated prospectively the relationship between dietary intakes of methionine, B vitam...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/ejcn.2011.157
更新日期：2012-02-01 00:00:00
abstract：OBJECTIVE:To assess the effect of zinc supplementation on respiratory tract disease, immunity and growth in malnourished children. DESIGN:A randomized double-blind placebo-controlled trial. SETTING:A day-care center in Quito, Ecuador. SUBJECTS:Fifty children (12-59 months old) recruited by height-for-age and weight-...
journal_title：European journal of clinical nutrition
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1996-01-01 00:00:00
abstract：OBJECTIVE:To determine if changes in serum homocysteine values during folic acid supplementation can identify objectively healthy subjects with subclinical folate deficiency. DESIGN:Blood drawn and processed in a regimented fashion from fasting subjects. Serum homocysteine values determined by gas chromatography-mass ...
journal_title：European journal of clinical nutrition
pub_type： 临床试验,杂志文章
doi：10.1038/sj.ejcn.1600385
更新日期：1997-03-01 00:00:00
abstract：OBJECTIVE:There are still controversies as to the potential beneficial effects of milk and fermented milk products on the level of lipoproteins. The objective of the present investigation was to test the effect of a moderate daily intake of a new fermented milk product, which was based on a bacterial culture obtained f...
journal_title：European journal of clinical nutrition
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1995-05-01 00:00:00
abstract：BACKGROUND:This pilot study investigates the efficacy of a probiotic consortium (Lab4) in combination with vitamin C on the prevention of respiratory tract infections in children attending preschool facilities. SUBJECTS/METHODS:In a double-blind, randomised, placebo-controlled pilot study with children aged 3-6 years,...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,随机对照试验
doi：10.1038/ejcn.2014.174
更新日期：2015-03-01 00:00:00
abstract：:Assessing diet through dietary patterns has become popular in diet-disease investigations due to the appealing simplicity of expressing several dietary exposures through one variable. Current evidence suggests that there may exist a priori and a posteriori dietary patterns that are consistently associated with reduced...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,评审
doi：10.1038/s41430-018-0128-8
更新日期：2018-06-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:Vitamin D mediates immunomodulatory functions, and its deficiency has been associated with an increased prevalence of immunological diseases. The supplementation of vitamin D might be therapeutically beneficial, for example, in lupus erythematosus patients. However, its affect on established recal...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,随机对照试验
doi：10.1038/ejcn.2010.276
更新日期：2011-03-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:Youth with type 1 diabetes (T1DM) are at substantially increased risk for adverse vascular outcomes, but little is known about the influence of dietary behavior on cardiovascular disease (CVD) risk profile. We aimed to identify dietary intake patterns associated with CVD risk factors and evaluate ...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章,多中心研究
doi：10.1038/ejcn.2014.96
更新日期：2014-12-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:To explore whether mothers' lifetime experiences with their own weight status and related cognitive and affective factors influence child feeding behavior. SUBJECTS/METHODS:Overweight mothers (N = 221) of 4-5 year olds recalled their weight at four time points, and were grouped into weight histor...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/s41430-017-0071-0
更新日期：2018-11-01 00:00:00
abstract：:The association of components of a low saturated fat (SFA) and of a Mediterranean diet was tested with atherosclerosis biomarkers in 190 familial hypercholesterolemia adults (FH) from Brazil (BR) and Spain (SP). Median blood LDL-C, Apolipoprotein B (apoB), and C reactive protein (hs-CRP) concentrations were higher in ...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/s41430-019-0529-3
更新日期：2019-12-01 00:00:00
abstract：OBJECTIVE:Few published data are available on the feeding practice of younger children in Tibet. Our study investigated feeding pattern of younger Tibetan children. DESIGN AND SUBJECTS:The study was a cross-sectional survey conducted in Tibet. A sample of 1655 children younger than 36 months old and their mothers was ...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/sj.ejcn.1602207
更新日期：2005-09-01 00:00:00
abstract：BACKGROUND/OBJECTIVES:Little is known about whether waist circumference (WC) has increased disproportionately relative to body mass index (BMI) around the world. SUBJECTS/METHODS:Data came from the US National Health and Nutrition Examination Survey (1988-1994 and 2007-2010), Health Survey for England (1992-1993 and 2...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/ejcn.2015.71
更新日期：2015-12-01 00:00:00
abstract：:Although calcium supplements are widely used in the treatment of osteoporosis their beneficial effect is not conclusively established. The biochemical effects of a calcium supplement (1 g/d) given for between 6 and 36 months were studied in 20 postmenopausal osteoporotic women who had normal calcium absorption. The me...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：
更新日期：1988-09-01 00:00:00
abstract：:A comparison of two methods: analytical and calculation on an estimation of dietary intakes of nitrate and nitrite from six different types of general hospital diets was studied. Studies were performed in the winter season of 1996-1997. It was found that the mean daily intake of nitrates was 85 mg per person in the an...
journal_title：European journal of clinical nutrition
pub_type： 杂志文章
doi：10.1038/sj.ejcn.1600588
更新日期：1998-07-01 00:00:00
