Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

Hochuli, Michel; Christ, Emanuel; Meienberg, Fabian; Lehmann, Roger; Krützfeldt, Jan; Baumgartner, Matthias R.

doi:10.1007/s10545-015-9864-2

Cited by 10 publications

(11 citation statements)

References 20 publications

(19 reference statements)

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“…Of these, 193 duplicate articles were removed, and 811 articles were excluded because they did not meet the selection criteria for the title and abstract screening. After full-text screening of the remaining 135 articles, 34 articles were selected for this scoping review: 11 primary studies, [23][24][25][26][27][28][29][30][31][32][33] 11 literature reviews, [34][35][36][37][38][39][40][41][42][43][44] 7 systematic reviews [45][46][47][48][49][50][51] and 5 articles of other research types (conference proceedings and case report). [52][53][54][55][56] A total of 11 studies (32%) were primary studies, including three RDs…”

Section: Selection Of Studiesmentioning

confidence: 99%

“…29 The studies with the largest sample size were based on information from European multicentre registries. Prader-Willi syndrome 3 [28,42,56] Glycogen storage disease type I 3 [27,47,52] Propionic acidemia 2 [30,41] Hepatolenticular degeneration (Wilson's disease) 2 [38,43] Galactosaemia 2 [49,54] Urea cycle disorders 2 [25,29] Very-long chain acyl-CoA dehydrogenase deficiency 1 [40] Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 [37] Maple syrup urine disease 1 [48] Multiple sclerosis 1 [46] Organic acidurias 1 [29] Inborn errors of metabolism 1 [53] Diet therapy types…”

Section: Distribution Of the Articles By Country And Time Of Studiesmentioning

confidence: 99%

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Diet therapy in patients with rare diseases: a scoping review

Liu

Chen

Zhong

et al. 2023

J Human Nutrition Diet

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Background This scoping review presents existing research evidence regarding diet therapy in patients with rare diseases (RDs). Methods Using the five‐stage scoping review framework proposed by Arksey, O'Malley and Levac, we searched the published literature in PubMed, Web of Science, Royal Society of Chemistry, China National Knowledge Infrastructure, VIP Database and Wan Fang Database from January 2010 to November 2022. We selected diet therapy studies on 121 RDs, as categorised by the National Health Commission of China in 2018. Charts for research analysis were developed and used to categorise the data. Results We ultimately included 34 diet therapy studies from 19 countries and territories for 10 RDs and 3 RD groups. RD diet therapy studies have mainly focused on inborn errors of metabolism (92.3%) and are common in Western countries. Most studies focused on diet therapy methods for RDs (44%). In addition, 29% of studies included diet therapy management, 15% included guidelines for diet therapy and 12% included the impact of diet therapy on patients. Conclusions Current diet therapies for RDs lack specificity and present with limited characteristics. Therefore, it is necessary to expand the scope and depth of future research and explore evidence‐based recommendations and new diet therapies focused on patient needs and family support to provide a reference for improving the efficacy and safety of diet therapies for RDs.

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Section: Selection Of Studiesmentioning

confidence: 99%

Section: Distribution Of the Articles By Country And Time Of Studiesmentioning

confidence: 99%

Diet therapy in patients with rare diseases: a scoping review

Liu

Chen

Zhong

et al. 2023

J Human Nutrition Diet

View full text Add to dashboard Cite

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“…In children <3 years continuous tube feeding is usually needed (Greene et al, 1976 ), because the level of pancreatic amylase able to hydrolyze raw starch is low before 3 years of age (Chou et al, 2010b ). A recent controlled crossover study enrolling adult GSD-Ia and GSD-Ib patients, highlighted that nighttime glucose control can be achieved also by the ingestion of a cooked pasta meal at bedtime, allowing a more palatable alternative to corn starch use (Hochuli et al, 2015 ).…”

Section: Therapeutic Approaches For Slc37a4 Defectmentioning

confidence: 99%

The Physiopathological Role of the Exchangers Belonging to the SLC37 Family

et al. 2018

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The human SLC37 gene family includes four proteins SLC37A1-4, localized in the endoplasmic reticulum (ER) membrane. They have been grouped into the SLC37 family due to their sequence homology to the bacterial organophosphate/phosphate (Pi) antiporter. SLC37A1-3 are the less characterized isoforms. SLC37A1 and SLC37A2 are Pi-linked glucose-6-phosphate (G6P) antiporters, catalyzing both homologous (Pi/Pi) and heterologous (G6P/Pi) exchanges, whereas SLC37A3 transport properties remain to be clarified. Furthermore, SLC37A1 is highly homologous to the bacterial glycerol 3-phosphate permeases, so it is supposed to transport also glycerol-3-phosphate. The physiological role of SLC37A1-3 is yet to be further investigated. SLC37A1 seems to be required for lipid biosynthesis in cancer cell lines, SLC37A2 has been proposed as a vitamin D and a phospho-progesterone receptor target gene, while mutations in the SLC37A3 gene appear to be associated with congenital hyperinsulinism of infancy. SLC37A4, also known as glucose-6-phosphate translocase (G6PT), transports G6P from the cytoplasm into the ER lumen, working in complex with either glucose-6-phosphatase-α (G6Pase-α) or G6Pase-β to hydrolyze intraluminal G6P to Pi and glucose. G6PT and G6Pase-β are ubiquitously expressed, whereas G6Pase-α is specifically expressed in the liver, kidney and intestine. G6PT/G6Pase-α complex activity regulates fasting blood glucose levels, whereas G6PT/G6Pase-β is required for neutrophil functions. G6PT deficiency is responsible for glycogen storage disease type Ib (GSD-Ib), an autosomal recessive disorder associated with both defective metabolic and myeloid phenotypes. Several kinds of mutations have been identified in the SLC37A4 gene, affecting G6PT function. An increased autoimmunity risk for GSD-Ib patients has also been reported, moreover, SLC37A4 seems to be involved in autophagy.

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“…The most common and severe form of the hepatic GSDs [ [1] , [2] , [3] ]. GSD Ia [OMIM 232200 ] represents the majority, ~ 80% of GSD I cases, and is caused by deficiency of glucose-6-phosphatase (G6Pase) enzyme that catalyzes the production of glucose from glucose-6-phosphate (G6P), a crucial step that contributes to glucose homeostasis [ 4 , 5 ]. G6Pase deficiency results in inadequate production of glucose, leading to severe fasting hypoglycemia and shunting of G6P into alternative pathways, resulting in hyperlactatemia, hyperuricemia and hyperlipidemia [ [6] , [7] , [8] ].…”

Section: Introductionmentioning

confidence: 99%