[Hepatic glycogen storage diseases: Symptoms, management and associated mutations]. / Enfermedades por depósito de glucógeno hepático: Clínica, manejo y mutaciones asociadas.

Glycogen storage diseases (GSD) are rare diseases derived from altered glycogen metabolism. This leads to glycogen storage in different organs such as muscle, kidney, and liver, resulting in a variety of clinical manifestations. GSD with liver involvement are classified into types I, III, IV, VI, and IX, depending on the enzymes affected. They are clinically characterized by hypoglycemia and hepato megaly as cardinal signs. Their diagnosis is initially based on clinical manifestations and laboratory test results. Nevertheless, diagnostic certainty requires a genetic study that identifies the specific mutation. Multiple mutations have been associated with each GSD. In Chile, since patients often lack the genetic study, the GSD genetic local characteristics are unknown. The treatment is based on dietary restrictions modulated according to the identified mutation. Today, the international consen sus indicates that early diagnosis allows better metabolic control and improves the patient's quality of life and prognosis. In this review, the information on GSD with liver involvement is updated to optimize the diagnosis, treatment, and follow-up of these patients, emphasizing specific nutritional and gastroenterological management.

Consumo de mono, di, oligo sacáridos y polioles fermentables (FODMAPs), una nueva fuente de sintomatología gastrointestinal / Fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAPS)

An increasing number of children and adults are currently suffering symptoms due to FODMAP (Fermentable Oligosaccharides, Disaccharides, Monosaccharides and Polyols) consumption. These carbohydrates are poorly digested in the human gastrointestinal tract, exerting an osmotic effect in the small intestine. In the colon, they become substrates to the microbiota. Microbial fermentation explains symptoms such as abdominal distention (postprandial fullness), bloating and flatulence, abdominal pain and loose feces or diarrhea. There are no standardized methods to measure them in daily clinical work. Daily tolerance and the no-effect doses are unclear. How to diagnose and treat FODMAP associated symptoms is also controversial. In this review, we aim to define FODMAP, their associated symptoms and the current techniques for assessing them. The low-FODMAP diet is described and how to implement it.

[Fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAPS)]. / Consumo de mono, di, oligo sacáridos y polioles fermentables (FODMAPs), una nueva fuente de sintomatología gastrointestinal.

An increasing number of children and adults are currently suffering symptoms due to FODMAP (Fermentable Oligosaccharides, Disaccharides, Monosaccharides and Polyols) consumption. These carbohydrates are poorly digested in the human gastrointestinal tract, exerting an osmotic effect in the small intestine. In the colon, they become substrates to the microbiota. Microbial fermentation explains symptoms such as abdominal distention (postprandial fullness), bloating and flatulence, abdominal pain and loose feces or diarrhea. There are no standardized methods to measure them in daily clinical work. Daily tolerance and the no-effect doses are unclear. How to diagnose and treat FODMAP associated symptoms is also controversial. In this review, we aim to define FODMAP, their associated symptoms and the current techniques for assessing them. The low-FODMAP diet is described and how to implement it.