Mucopolysaccharidosis type I?

summary

Mucopolysaccharidosis (MPS) is a group of inherited disorders of mucopolysaccharide metabolism caused by lysosomal abnormalities. It is a congenital rheumatic disease caused by incomplete decomposition of glucosamine due to the deficiency of enzyme activity. The common clinical features were epiphyseal changes, mental retardation, visceral involvement and corneal opacity; The biochemical characteristic is the deficiency of catabolism of acidic mucopolysaccharide, which results in the accumulation of excessive mucopolysaccharide in cells and the excretion of excessive mucopolysaccharide in urine. Let's share my experience with you.

Mucopolysaccharidosis type I?

1. The nervous system is mainly mental retardation, which is obvious after one year old, clumsy in action, backward in language development, and slow in response to the surrounding environment. The degree of mental retardation is related to the concentration of mucopolysaccharide in cerebrospinal fluid. There are not many authors who have convulsions. Other neurological signs, such as decreased or increased tendon reflexes, spastic paralysis and pathological reflexes, may also appear.

2. The cardiovascular symptoms of circulatory system are obvious, including cardiac hypertrophy, pulmonary hypertension and systolic murmur at the left edge of sternum or apex of heart caused by valve disease. Extensive coronary artery infarction can cause sudden death.

3. Recurrent respiratory tract infection and ventilation disturbance. Nasopharyngeal secretions increased, tonsil and adenoid proliferation, craniofacial bone deformity, can cause nasopharyngeal stenosis, dyspnea, mouth breathing, snoring. If thoracic deformity is accompanied by bronchial cartilage deformity, dyspnea is more serious, and it is easy to cause pneumonia and bronchitis.

matters needing attention

Glycogen accumulation disease (GSD) is a group of inherited disorders of glycogen metabolism in children. It is characterized by excessive accumulation of glycogen in body tissues and difficulty in decomposition. Glycogen anabolism is rarely found, resulting in less glycogen storage in body tissues. Glycogen storage disease is not a disease, but a group of diseases. At present, 12 species have been identified. Hypoglycemia is the main clinical feature. The organs involved are liver, kidney and skeletal muscle. Most of them are inherited by autosomal recessive inheritance, and most of them are in childhood. Some patients can maintain their general health after reaching adulthood.