Abstract：
:Glycogen storage disease type V (GSDV) is a rare inborn error of carbohydrate metabolism. Patients present with exercise intolerance due to blocked glycogen breakdown in skeletal muscle. Introducing alternative fuel substrates, such as ketone bodies (KBs), could potentially alleviate muscle symptoms. This pilot study investigates which of three different modified ketogenic diet regimes is optimal for GSDV-patients to follow in a future large-scale study. Participants were randomised to follow one of three diet regimes for 3 weeks (#1: 65%/15%/20%; #2: 75%/15%/10%, or #3: 80%/15%/5%, fat/protein/carbohydrate). The primary outcome was exercise tolerance assessed by heart rate (HR) changes during constant load cycling. Secondary outcomes included levels of ketosis, and changes in perceived exertion and indirect calorimetry measures during exercise. Ten GSDV-patients were included. Eight completed the study. The other two were excluded. Diet #3 showed the highest average KB level (1.1 mmol/L) vs #2 (0.5 mmol/L) and #1 (0.3 mmol/L). Five patients reported subjective symptom relief, all of whom were on diets #2 and #3. All diet regimes seemed to improve fatty acid oxidation rates and exercise capacity as indicated by a small decrease in HR and perceived exertion. The results of this open-label pilot study show that diets #2 and #3 induce ketosis and improve symptoms and exercise capacity in GSDV-patients. Diet #2 had the highest acceptability score and was superior or equal to diet #3 in all other parameters, except level of ketosis. Based on this, we suggest testing diet #2 in a large-scale, placebo-controlled study in GSDV.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Løkken N,Hansen KK,Storgaard JH,Ørngreen MC,Quinlivan R,Vissing Jdoi
10.1002/jimd.12223subject
Has Abstractpub_date
2020-07-01 00:00:00pages
778-786issue
4eissn
0141-8955issn
1573-2665journal_volume
43pub_type
杂志文章abstract：:Niemann-Pick disease type C (NPC) is a neurovisceral storage disorder with an unknown primary deficiency. Somatic cell hybridization experiments using human cultured fibroblasts have shown that two complementation groups (NPC-alpha and NPC-beta) are associated with the biochemical and clinical phenotypes comprising NP...
journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
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doi：10.1007/BF01800711
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
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pub_type： 杂志文章
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更新日期：2011-12-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01800058
更新日期：1988-01-01 00:00:00
abstract：:A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates f...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-011-9308-6
更新日期：2011-06-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1023/a:1005479307906
更新日期：1998-08-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-010-9065-y
更新日期：2010-12-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-011-9434-1
更新日期：2012-07-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-017-0127-2
更新日期：2018-03-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01800063
更新日期：1987-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1005305614374
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1005369926784
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,meta分析,评审
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
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更新日期：2017-11-01 00:00:00
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pub_type： 杂志文章
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01799945
更新日期：1991-01-01 00:00:00
abstract：:We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hydroxybutyric acid (GHB), and recent studies have advanced th...
journal_title：Journal of inherited metabolic disease
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更新日期：2018-07-01 00:00:00
abstract：:Mucolipidosis IV (ML IV) (McKusick 252650) is an autosomal recessive metabolic disorder that displays signs of both lipid and mucopolysaccharide (glycosaminoglycan) storage. It has been reported that fibroblasts from ML IV patients exhibit abnormally high synthesis of hyaluronic acid in culture. In our search for a bi...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF00711589
更新日期：1994-01-01 00:00:00
