Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

Olgaç, Asburçe; İnci, Aslı; Okur, İlyas; Biberoğlu, Gürsel; Oğuz, Deniz; Ezgu, Fatih Süheyl; Kasapkara, Çiğdem Seher; Aktaş, Emine; Tümer, Leyla

doi:10.1159/000509335

Cited by 14 publications

(8 citation statements)

References 26 publications

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“…Currently, there is no specific treatment for patients with GSDIII, and the most common approach is oral uncooked cornstarch, high fat, high protein, and other dietary management to reduce the likelihood of hypoglycemia and related complications occurring, which is helpful to stabilize the patients' conditions [ 1 , 2 , 20 , 21 ]. However, no specific therapy has been found to be effective for patients with GSDIII.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

Yang

et al. 2023

International Journal of Endocrinology

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Purpose. Glycogen storage disease type III (GSDIII) is a uncommon autosomal recessive inherited metabolic disorder, which is caused by variants in the AGL gene. The purpose of this study was to elucidate the clinical and functional features of two novel variants in two families with GSDIIIa. Methods. We collected the clinical and laboratory data of the two patients. Genetic testing was performed using GSDs gene panel sequencing, and the identified variants were classified according to the American College of Medical Genetics (ACMG) criteria. The pathogenicity of the novel variants was furthermore assessed through bioinformatics analysis and cellular functional validation experiments. Results. The two patients were hospitalized with abnormal liver function or hepatomegaly, which was characterized by remarkably elevated liver enzyme and muscle enzyme levels, as well as hepatomegaly, and were eventually diagnosed with GSDIIIa. Genetic analysis detected two novel variants of AGL gene in the two patients: c.1484A > G (p.Y495C), c.1981G > T (p.D661Y). Bioinformatics analysis indicated that the two novel missense mutations most likely altered the protein’s conformation and therefore made the enzyme it encodes less active. Based on the ACMG criteria, both variants were considered likely pathogenic, in accordance with the functional analysis results, which demonstrated that the mutated protein was still localized in the cytoplasm and that the glycogen content of cells transfected with the mutated AGL was increased compared to cells transfected with the wild-type one. Conclusion. These findings indicated that the two newly identified variants in the AGL gene (c.1484A > G; c.1981G > T) were undoubtedly pathogenic mutations, inducing a slight reduction in glycogen debranching enzyme activity and a mild increase in intracellular glycogen content. Two patients who visited us with abnormal liver function, or hepatomegaly, improved dramatically after treatment with oral uncooked cornstarch, but the effects on skeletal muscle and myocardium required further observation.

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Section: Discussionmentioning

confidence: 99%

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

Yang

et al. 2023

International Journal of Endocrinology

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“…Instead, it suppresses fatty acid usage due to insulin secretion and leads to decreased exercise capacity (40). The beneficial effect of a low carbohydrate diet has recently been reported for several types of glycogen storage diseases (41,42). Furthermore, it has been postulated that increased serum ketone bodies due to a lowcarbohydrate diet or intermittent fasting and exercise can lead to positive adaptation and improved physical activity tolerance in patients with glycogen storage diseases (43).…”

Section: Discussionmentioning

confidence: 99%

A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review

et al. 2022

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Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuously to be a professional boxer. Mild hemolytic anemia was noted. The enzymatic activity of PGK was significantly reduced, and a novel missense mutation, p.S62N, was identified in the PGK1 gene. A literature review revealed only one case with a mixed hemolytic and myopathic phenotype like ours. This mild phenotype indicates the complex pathophysiology of PGK deficiency and suggests the benefits of dietary control and exercise.

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“…However, eucaloric KD improves energy balance by increasing the blood levels of ketone bodies, which are alternative substrates for energy production in the brain, heart, and skeletal muscles (10). In addition to conventional treatment, novel nutritional therapies, including CKD, MAD, high-fat diet, and synthetic ketone bodies, applied to maintain normoglycemia and improve long-term complications such as cardiomyopathy (CMP) have been reported in recent studies (12)(13)(14)(15).…”

Section: Glycogen Storage Disease Type IIImentioning

confidence: 99%

Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article

Kök Şan,

Muslu,

Gökçay

2024

Clinical and Experimental Health Sciences

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Objective: The ketogenic diet, which has been used in the treatment of epilepsy since the 1920s, is a diet containing high fat, sufficient protein, and low carbohydrate. The ketogenic diet mimics the metabolic effects of fasting by shifting metabolism towards fat utilization. The ketogenic diet, which has different variants, such as the classical ketogenic diet, modified Atkins diet, and medium-chain triglyceride diet, is used in inborn errors of metabolism to target the underlying metabolic state by bypassing the damaged metabolic pathway or to treat the clinical symptoms of inborn errors of metabolism, such as epileptic seizures. In this review, we assessed the evidence for ketogenic diet interventions in the treatment of inborn errors of metabolism. Methods: The Google Scholar search engine, PubMed, Scopus, and Science Direct databases were used to find studies on the use of ketogenic diet interventions in the treatment of inborn errors of metabolism. Results: The beneficial effects of different variants of the ketogenic diet on glucose transport type 1 deficiency syndrome and pyruvate dehydrogenase complex deficiency have long been recognized. There are also favorable data on its use in myopathic glycogen storage diseases, mitochondrial diseases, and nonketotic hyperglycinemia accompanied by epilepsy. Conclusion: The evidence is mostly based on individual case reports, case series, and clinical trials with small sample sizes and is insufficient to make recommendations.

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Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

Cited by 14 publications

References 26 publications

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review

Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article

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