About Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency
New York Center for Rare Diseases apoya la misión y las pautas del Centro de Información sobre Enfermedades Raras y Genéticas (GARD, por sus siglas en inglés). La siguiente información ha sido proporcionada por los NIH.
Resumen
Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
Causas
¿Qué causa esta enfermedad?
Genetic Mutations: Glycogen storage disease due to glucose-6-phosphatase deficiency is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
Si sospecha que puede tener esta enfermedad, se recomienda que empiece a recopilar el historial de salud de su familia. Debe comentar con su equipo médico cualquier información sobre otros familiares que hayan tenido síntomas similares, cuándo aparecieron por primera vez dichos síntomas (en usted o en sus parientes) o la exposición a factores ambientales que pudieran, potencialmente, causar la enfermedad.
Disruption in Metabolism: Glycogen storage disease due to glucose-6-phosphatase deficiency is caused by a disruption in a person's metabolism. Metabolism is the series of chemical reactions in our body that turns the food we eat into energy and removes toxins. Hormones and specific proteins, called enzymes, help make the right chemical reactions happen in the right order. However, genetic changes can prevent hormones or enzymes from working properly, which can lead to a disruption in metabolism such as energy not being created for the body or toxins not being removed from the body.
¿Puede esta enfermedad transmitirse de padres a hijos?
Sí. Es posible que un progenitor biológico transmita a su hijo mutaciones genéticas que causen esta enfermedad o que aumenten las probabilidades de heredarla. Esto se conoce como herencia. Saber si otros miembros de la familia han tenido previamente esta enfermedad o, dicho de otro modo, su historial familiar de salud, puede ser una información muy importante para su equipo médico.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current data, this disease can be inherited in the following pattern(s):
Autosomal Recessive: Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.
Si ambos padres biológicos son portadores, existe un 25 % de probabilidades de que su hijo o hija herede ambas copias del gen mutado, y se vea afectado por la enfermedad. Además, existe un 50 % de probabilidades de que herede solo una copia del gen mutado y sea portador.