What are the symptoms of glycogen storage type 2?

Introduction: Because many diseases now have genetic factors, if you want to prevent this disease, you must start from the source**, because this can reduce the chance of disease in future generations, and at the same time, you can make your body healthier. <>

Glycogen storage disease is a disease with genetic factors, whether it is glycogen synthesized by glucose or glucose synthesized by glycogen decomposition, it requires a series of enzymes to catalyze and regulate, most patients are infected with this disease because of chromosomal recessive inheritance, because glycogen synthesis and decomposition are involved, so different enzyme defects will cause different types of diseases, so patients find that they have glycogen storage disease must be positive**. <>

Because glycogen storage disease will pose a certain threat to the human body, so people should pay enough attention to it in life, patients with glycogen storage disease will have symptoms of liver enlargement, hypoglycemia and muscle atrophy, often accompanied by movement disorders, and will also affect people's normal life, in severe cases, it will also cause intellectual development disorders and physical development of children, and will also make them appear mental retardation and obesity, so patients must pay enough attention to glycogen storage disorder. <>

Because there are different methods for different degrees of glycogen storage, patients must go to the hospital for examination and symptomatic, newborns and children are more seriously ill, so it is relatively difficult to do so, the most important method is diet, because dietary therapy can prevent the occurrence of hypoglycemia, and drugs can be used to control it, and there is no effective method for class II now, Patients can only control the progression of the disease by paying more attention to their daily life, and they should also actively cooperate with good doctors and take preventive measures.

There will be hypoglycemia, hunger, mental retardation, short stature, osteoporosis, and there may be ** relaxation or hyperlipidemia.

Fatigue, especially prone to shock, yellowing, hypoglycemia, dyspnea, and cough are all symptoms of glycogen storage type 2.

There will always be weakness in the limbs, there will always be dizziness, there will always be loss of appetite, and there will always be pain, and if the situation is very severe, there will be vomiting.

There will be low blood sugar, it will be hindered when exercising, people will not be able to work, and the IQ of the child will also be affected, so that the child's speed will become very slow, and there will be obesity.

Symptoms of dyspnea, low muscle tone, atrophy, gastrointestinal bleeding, heart failure, infection appear.

Patients with glycogen storage type 2 mainly present with spleen and stomach discomfort, often feeling abdominal pain and bloating. Splenomegaly, accompanied by hypotension.

Generally speaking, it will manifest itself in the limbs, and if you suffer from this disease, the limbs will be very soft, and you will often sweat and slurred your speech.

The most obvious part of this disease is the face, which is characterized by an enlarged tongue, difficulty breathing, and difficulty speaking, especially on the face.

Glycogen storage disease is a type of glycogen metabolism disorder caused by congenital enzyme defects, most of which are autosomal recessive, and the incidence varies according to ethnicity.

Glycogen storage disease** includes the following:

1. Diet**, mainly used for neonatal and pediatric patients with liver involvement, prone to hypoglycemia, ketosis and lactic acidosis;

2. Enzyme substitution**, enzyme substitution** is currently in the stage of animal experiments, and whether enzyme substitution** can be used in humans still needs to do further clinical trials;

3. Genes, genes are the most effective and thorough methods of glycogen storage disease, with the rapid development of genetic engineering research, the enzymes lacking in glycogen storage disease can be synthesized by genetic engineering, and the appropriate vector is selected to transmit to a specific site to restore enzyme activity, but it has not been used in clinical practice;

4. Surgery**, including hepatic adenoma resection, partial liver resection and organ transplantation, including liver transplantation and heart transplantation, organ transplantation including significant increase in blood sugar and insulin levels, bone marrow transplantation and umbilical cord blood stem cell transplantation** can partially improve the patient's symptoms and improve physical development, but surgery cannot prevent the occurrence of hepatic adenoma, and there are many complications and high risk of death in organ transplantation;

5. Symptomatic**, patients with heart failure, renal impairment, nutritional deficiency and neutropenia and reversible infections should be taken symptomatic**;

6. Drugs**, vitamin drugs such as B vitamins and vitamin C, infected with antibiotics**, blood sugar continues to rise after correcting hypoglycemia, and amtomine is used**.

Hepatic glycogen storage disorders are a group of rare, congenital recessive glycogen metabolic disorders in infants and young children, and the incidence of sibling children is significantly increased. Hepatic glycogen storage disease is a relatively common type of glycogen storage disorder, most of which are caused by the defect of glycogen metabolism enzymes, resulting in glycogen decomposition or synthesis disorders, resulting in excessive involvement of glycogen or atypic glycogen in different tissues and organs. The main organs involved are the liver, kidneys, muscles, small intestine, etc.

Due to the defects of different enzymes, the classification of hepatic glycogen storage disorder is different. The main cause of the disease is genetic factors. In terms of clinical manifestations, patients generally present with mild and severe symptoms, and in the neonatal period, severe hypoglycemia, acidosis, dyspnea, and liver enlargement may occur; In mild cases, growth retardation and abdominal distension may occur.

Due to the imbalance between chronic lactic acidosis and long-term insulin, the child is obviously short stature, backward bone age, osteoporosis, abdominal pubic trunk continues to increase, and the distension is obvious, the muscles are relaxed, and xanthomas often appear under the skin on the sides of the limbs.

Glycogen storage disease usually causes damage to multiple organs, including liver, blood, kidneys, cardiovascular, etc. Advice and guidance for this disease requires active use to avoid hypoglycemia. Neonatal glycogen storage disease is mainly manifested in severe cases of severe hypoglycemia, acidosis, dyspnea, and hepatomegaly in neonates; Mild cases may be detected in infants and toddlers with growth retardation and abdominal distention.

There is obvious short stature, backward bone age, osteoporosis, muscle relaxation, the proportion and intelligence of all parts of the body are normal, and the liver is continuously enlarged, the abdomen is relatively full, there will be chronic lactic acidosis, sometimes there will be episodes of hypoglycemia, there will be diarrhea, blood lipids may increase, yellow tumors may appear on the outside of the limbs, and there may be bleeding, damage to kidney function, such as renal calcification, glomerulosclerosis, etc.

Glycogen storage disease is a glycogen metabolism disorder caused by congenital enzyme defects, and the main clinical manifestations are: 1. Starvation hypoglycemia, hypoglycemia occurs after birth, and severe hypoglycemia is induced by fasting, and a small number of infants and young children can be accompanied by convulsions and coma when they are severely hypoglycemic. Long-term hypoglycemia affects the development of brain cells and can be accompanied by mental retardation.

2. The abdomen is distended, the liver is enlarged, and a large amount of glycogen is deposited in hepatocytes, and hepatomegaly can occur in the neonatal period, without jaundice and spleen enlargement. 3. Backward growth and development, obviously short stature, but the proportion of all parts of the body is normal, the bone age is backward, and osteoporosis. 4. Other manifestations, accompanied by ketosis and lactic acidosis, muscle relaxation, xanthomas are visible under the skin of the extremities and buttocks due to hyperlipidemia.

diet**, mainly for neonates and children with liver involvement, who are prone to hypoglycemia, ketosis and lactic acidosis;

2. Enzyme substitution**, enzyme substitution** is currently in the stage of animal experiments, and whether enzyme substitution** can be used in humans still needs to do further clinical trials;

3. Genes, genes are the most effective and thorough methods of glycogen storage disease, with the rapid development of genetic engineering research, the enzymes lacking in glycogen storage disease can be synthesized by genetic engineering, and the appropriate vector is selected to transmit to a specific site to restore enzyme activity, but it has not been used in clinical practice;

The main manifestations of severe manifestations can be severe hypoglycemia, acidosis, dyspnea, and hepatomegaly in neonates; Mild cases may be detected in infants and toddlers with growth retardation and abdominal distention.

There is obvious short stature, backward bone age, osteoporosis, muscle relaxation, the proportion and intelligence of all parts of the body are normal, and the liver is continuously enlarged, the abdomen is relatively full, there will be chronic lactic acidosis, sometimes there will be episodes of hypoglycemia, there will be diarrhea, blood lipids may increase, yellow tumors may appear on the outside of the limbs, and there may be bleeding, damage to kidney function, such as renal calcification, glomerulosclerosis, etc.

It occurs at birth, and in adulthood, patients with mild illnesses get better. The predominantly liver disease is the most common.

Babies are born with symptoms of an enlarged liver. Neonatal hepatomegaly is not noticeable and goes unnoticed. Around the age of 1, the liver is gradually enlarged, and even occupies the entire abdominal cavity.

Hypoglycemia: more than 1 year old, with age, there will be obvious hypoglycemic symptoms, such as weakness and vomiting, weakness, sweating, convulsions and coma, growth retardation: reverse hypoglycemia will affect the patient's intellectual development and physical development, manifested as low intelligence, the patient is obese, short, dull, the color is mostly light yellow, poor muscle development, and the symptoms of lower limb weakness are more common.

Ketoacidosis: is the leading cause of death in children. Most patients have polyuria, polydipsia, and fatigue in the days leading up to the onset of consciousness, followed by loss of appetite, nausea, vomiting, often accompanied by headache, drowsiness, irritability, deep and rapid breathing, and the smell of rotten apple (acetone) in the exhalation.

As the disease progresses further, there is severe dehydration, decreased urine output, poor elasticity, sunken eyes, thin pulse, and decreased blood pressure. In the later stages, all kinds of reflexes are dulled or even disappear, and drowsiness leads to coma.

Frequent hypoglycemic convulsions and confusion in neonates and infants recover with dextrose or glucose injections; Symptoms of acidosis with deep and rapid breathing in the presence of hypoglycemia are important clinical clues to the diagnosis of glycogen storage disease. Signs include an enlarged liver and a bulge in the right upper quadrant. Laboratory tests should include dynamic changes in blood glucose, blood ketone bodies, lactate, lipids, and uric acid (fasted and postprandial).

The main clinical manifestations of glycogen storage disease: hypoglycemia; growth retardation; distended abdomen; muscle relaxation; The proportions and intelligence of all parts of the Zen body are normal.

Answer] :d type I GSD is caused by the defect of glucose-6-phosphatase system activity in the liver, kidney and other tissues, and is the most common glycogen storage disease, accounting for about 25% of the total prederm.