Ketogenic diet treatment in adults with glycogenosis type IIIa (Morbus Cori)

Fischer, Tobias W.; Njoroge, Helen; Och, Ulrike; Klawon, Ira; Marquardt, Thorsten

doi:10.1016/j.yclnex.2019.09.004

Cited by 4 publications

(2 citation statements)

References 19 publications

(19 reference statements)

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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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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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“…El diagnóstico definitivo se basa en demostrar la deficiencia enzimática (5), el tratamiento incluye dieta alta en proteínas con suplementos de maicena (6). No existe cura, las recomendaciones están basadas en el seguimiento de síntomas y el tratamiento dietético, cuyo cumplimiento refleja resultados positivos evidenciados en normoglicemia (7).…”

Section: Introductionunclassified

Enfermedad de Cori-Forbes. A propósito de dos casos.

Romero¹,

Hernandez²,

Vetencourt³

et al. 2021

CIMEL

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La glucogenosis tipo III (GSDIII) o enfermedad de Cori-Forbes es un trastorno causado por mutaciones en el gen AGL, que genera deficiencia de la enzima amilo-1,6-glucosidasa y el almacenamiento de dextrina límite en los tejidos afectados: hígado, músculo esquelético y cardíaco en GSDIIIa y sólo hígado en GSDIIIb. Se reportan dos casos: pacientes femenino y masculino, hermanos, de 7 y 5 años de edad respectivamente. Presentan aumento en el perímetro abdominal, extremidades delgadas, retardo del crecimiento pondoestatural, facies con mejillas redondas. Se observan alteraciones en valores sanguíneos como glicemia, colesterol HDL y VLDL, triglicéridos, AST, ALT, deshidrogenasa láctica y creatinasa. Se indicó plan dietético con suministro de maltodextrina a intervalos cortos de tiempo con restricción de sacarosa. El cumplimiento de la dieta y la valoración nutricional especializada lograron mejoría en la calidad de vida de los pacientes. Palabras clave: Trastorno Metabólico, Enfermedad Metabólica, Glucogenosis Tipo III, Enfermedad De Cori-Forbes.

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A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report

et al. 2022

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Background Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described, rhabdomyolysis crises are caused by fever and/or exercise and can accompany acute hemolytic anemia. Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis. Case presentation In this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. Beside an antiepileptic treatment, we propose a new therapeutic approach based on ketogenic diet in order to supply an energetic substrate for skeletal muscle and neurons. Conclusions The anti-epileptic therapy and the dietetic approach were well tolerated by the patient who showed good compliance. This led to a deceleration of the disease with no other acute episodes of seizures and rhabdomyolysis, without any side effects observed.

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Ketogenic diet treatment in adults with glycogenosis type IIIa (Morbus Cori)

Cited by 4 publications

References 19 publications

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

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

Enfermedad de Cori-Forbes. A propósito de dos casos.

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report

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