What is glycogen storage disease type 6?

summary

Glycogen storage disease is a kind of glycogen metabolism disorder caused by congenital enzyme deficiency. Most of them are autosomal recessive inheritance, and the incidence varies with race. According to European data, the incidence rate is 1/ (20 thousand to 25 thousand). There are at least 8 kinds of enzymes necessary for glycogen synthesis and catabolism. There are 12 types of clinical diseases caused by the deficiency of these enzymes, among which type I, III, IV, VI and IX are mainly liver diseases; Type Ⅱ, Ⅴ and Ⅶ were mainly muscle tissue damage. This kind of disease has a common biochemical characteristic, that is, abnormal glycogen storage, the vast majority of which is the increase of glycogen storage in liver, muscle, kidney and other tissues. Only a few diseases have normal glycogen storage and abnormal glycogen molecular structure. What is glycogen storage disease type 6?

What is glycogen storage disease type 6?

1. The disease can occur at birth. After adulthood, the patients with mild diseases will get better. Type I liver disease is the most common. The baby will be born with symptoms of liver enlargement. Neonatal hepatomegaly is not obvious and is not noticed. Around 1 year old, the liver gradually enlarged, even occupied the whole abdominal cavity. Hypoglycemia: more than 1 year old, with age, there will be obvious hypoglycemia symptoms, such as weakness, vomiting, weakness, sweating, convulsion and coma,

2. Growth retardation: recurrent hypoglycemia will affect the intellectual development and physical development of patients, manifested as low intelligence, obesity, short stature, dull skin, pale yellow color, poor muscle development, and lower limb weakness.

Ketoacidosis: the main cause of death in children. Most patients have polyuria, thirst, polydipsia and fatigue a few days before the onset of disturbance of consciousness, followed by anorexia, nausea and vomiting, often accompanied by headache, drowsiness, irritability, deep and fast breathing, and the smell of rotten apple (acetone) in the exhalation is the characteristic of their typical attack. With the further development of the disease, severe water loss, decreased urine volume, poor skin elasticity, eye drop, pulse speed and blood pressure decreased. In the late stage, all kinds of reflex are dull or even disappear, drowsiness even coma.

matters needing attention

It is mainly used for newborns and children with liver involvement, prone to hypoglycemia, ketosis and lactic acid poisoning. Due to the immaturity of the body immune system, the disease of newborn and infant is serious, and the treatment is difficult. Older children, with a certain degree of resistance, treatment is easier. The disease is a hereditary disease, so it is difficult to cure. However, gene therapy developed in recent years may cure glycogen storage disease.