A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases

Abstract

Dietary interventions are now being used as an adjunct therapy in the treatment of rare diseases. One such method is the high-fat, moderate-protein, and very low-carbohydrate diet which produces ketosis and therefore called the ketogenic diet. Some of the more common conditions that are treated with this method are pharmacoresistant epilepsy, infantile spasms, glycogen storage diseases, and other forms of rare metabolic disturbances. With this review, we look at different uses of the ketogenic diet in treating rare diseases and the recommendations based on current evidence.

Ketogenic Diet and Genetic Dis Orders

“…The side effects reported were constipation, diarrhea, vomiting, hypercalciuria, hyperlipidemia and weight loss. [1] As we live in the era of genomics, evidence is showing that identifying specific mutations in the genome is relevant both for diagnosis and prognosis as well as it is for treatment selection. This is applicable in epilepsy as well.…”

“…High-carbohydrate diets could prevent fasting hypoglycemia, but the main issue is that increases glycogen storage and, also, the progression of muscular and cardiac manifestations. [28,1] Recently, there are several publications that emphasized the positive outcomes of KD in the management of GSDs. For instance, several case reports documented beneficial effects of KD in GSD III even since 2014.…”

“…[29] Also, in 2020, a 4-year follow-up case report, concluded that KD is safe and could reverse the cardiomyopathy and improve quality of life in patients with GSD III. [30,1] GSD V, also called McArdle disease is caused by genetic defects of glycogen phosphorylase, a muscle specific isozyme, which lead to incapacity of glycogen to be converted in ATP in skeletal muscles. Patients with GSD V present exercise intolerance.…”

“…Currently, there are four types of ketogenic diet therapies: the classical ketogenic diet (KD), modified Atkins diet (MAD), medium chain triglyceride (MCT) and, also, low glycaemia index treatment (LGIT). [1] During ketosis, in the human organism is produced a form of starvation, a state that deviate from the traditional source of energy-the glucose to fats. By limiting the carbohydrate intake to a total amount per day of 10 to 50 grams (5% to 10% of total caloric intake), the human body is forced to use fats as a source of energy for cells, tissues, and organs.…”

“…By limiting the carbohydrate intake to a total amount per day of 10 to 50 grams (5% to 10% of total caloric intake), the human body is forced to use fats as a source of energy for cells, tissues, and organs. [1] Even since 1925, KD began to be used as a treatment for drug-resistant epilepsy. Recently, KD has begun to take part in the treatment of many chronic diseases such as diabetes, cancer, obesity, polycystic ovary syndrome, neuromuscular and neurological diseases, and many studies demonstrating the positive effects of KD.…”