Diseases of children (pediatrics)

Mucopolysaccharidosis, type I: causes, symptoms, diagnosis, treatment

Mucopolysaccharidosis, type I - is an autosomal recessive disease resulting from a decrease in the activity of lysosomal aL-iduronidase, which is involved in the metabolism of glycosaminoglycans. The disease is characterized by progressive disorders from the internal organs, the bone system, psychoneurological and cardiopulmonary disorders.

Mucopolysaccharidosis in children: symptoms, diagnosis, treatment

Mucopolysaccharidosis (MPS) is a hereditary metabolic disease from the group of lysosomal accumulation diseases. The development of hereditary mucopolysaccharidosis is caused by a disruption in the function of lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), important structural components of the intracellular matrix.

Fructose metabolism disorder (fructosuria) in children: symptoms, diagnosis, treatment

Three hereditary disorders of fructose metabolism are known in humans. Fructozuria (fructoquinase deficiency) is an asymptomatic condition associated with increased fructose in the urine: hereditary fructose intolerance (aldolase B deficiency) and fructose-1,6-bisphosphatase deficiency, which is also attributed to gluconeogenesis defects.

Disturbance of the metabolism of galactose (galactosemia) in children

Galactosemia is a hereditary disease caused by abnormalities in the metabolism of galactose. Symptoms of galactosemia include impaired liver and kidney function, decreased cognitive function, cataracts and premature ovarian failure. The diagnosis is based on the study of erythrocyte enzymes. Treatment consists of a diet that does not contain galactose.

Infringement of an exchange of carbohydrates at children

Disorders of carbohydrate metabolism are a group of common hereditary metabolic disorders. Carbohydrates - one of the main sources of metabolic energy in the cell, among them a special place is occupied by monosugars - galactose, glucose, fructose and polysaccharide - glycogen. The key substratum of energy metabolism is glucose.

Pathogenesis of glycogeneses

Glucose-6-phosphatase catalyzes the final reaction of both gluconeogenesis and glycogen hydrolysis and carries out the hydrolysis of glucose-6-phosphate to glucose and inorganic phosphate. Glucose-6-phosphatase is a special enzyme among the liver involved in the metabolism of glycogen. The active center of glucose-6-phosphatase is located in the lumen of the endoplasmic reticulum, which necessitates the transport of all substrates and reaction products through the membrane.

Glycogenosis in children

Glycogenoses are caused by a deficiency of enzymes involved in the synthesis or cleavage of glycogen; a deficiency can occur in the liver or muscles and cause hypoglycemia or the deposition of abnormal amounts or types of glycogen (or its intermediate metabolites) in tissues.

Hyperparathyroidism in children

Hyperparathyroidism - excess production of parathyroid hormone. Excess production of parathyroid hormone may be due to the primary pathology of parathyroid gland - adenoma or idiopathic hyperplasia (primary hyperparathyroidism).

Hypoparathyroidism in children

Hypoparathyroidism - deficiency of parathyroid gland function, characterized by decreased production of parathyroid hormone and a violation of calcium and phosphorus metabolism.

Non-diabetes in children

Non-diabetes mellitus - a disease caused by absolute or relative deficiency of antiduyretic hormone, is characterized by polyuria and polydipsia. Antidiuretic hormone stimulates the reabsorption of water in the collecting tubules of the kidneys and regulates water metabolism in the body.

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