Diseases of children (pediatrics)

Mucopolysaccharidosis type I: causes, symptoms, diagnosis, treatment

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

Mucopolysaccharidoses in children: symptoms, diagnosis, treatment

Mucopolysaccharidoses (MPS) are hereditary metabolic diseases from the group of lysosomal storage diseases. The development of hereditary mucopolysaccharidoses is caused by dysfunction 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

There are three known hereditary disorders of fructose metabolism in humans. Fructosuria (fructokinase deficiency) is an asymptomatic condition associated with elevated levels of fructose in the urine; hereditary fructose intolerance (aldolase B deficiency); and fructose-1,6-biphosphatase deficiency, which is also classified as a gluconeogenesis defect.

Galactose metabolism disorder (galactosemia) in children

Galactosemia is an inherited disorder caused by abnormal galactose metabolism. Symptoms of galactosemia include liver and kidney dysfunction, cognitive decline, cataracts, and premature ovarian failure. Diagnosis is based on red blood cell enzyme testing. Treatment consists of a galactose-free diet.

Carbohydrate metabolism disorder in children

Carbohydrate metabolism disorders are a group of common hereditary metabolic disorders. Carbohydrates are one of the main sources of metabolic energy in the cell, among them monosaccharides - galactose, glucose, fructose and polysaccharide - glycogen occupy a special place. The key substrate of energy metabolism is glucose.

Pathogenesis of glycogenoses

Glucose-6-phosphatase catalyzes the final reaction of both gluconeogenesis and glycogen hydrolysis and hydrolyzes glucose-6-phosphate into glucose and inorganic phosphate. Glucose-6-phosphatase is a special enzyme among those involved in liver glycogen metabolism. 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 across the membrane.

Glycogenoses in children

Glycogenoses are caused by deficiencies of enzymes involved in the synthesis or breakdown of glycogen; the deficiency may occur in the liver or muscle and cause hypoglycemia or deposition of abnormal amounts or types of glycogen (or its intermediate metabolites) in tissues.

Hyperparathyroidism in children

Hyperparathyroidism is an excessive production of parathyroid hormone. Excessive production of parathyroid hormone can be caused by primary pathology of the parathyroid glands - adenoma or idiopathic hyperplasia (primary hyperparathyroidism).

Hypoparathyroidism in children

Hypoparathyroidism is a deficiency of the parathyroid glands, characterized by reduced production of parathyroid hormone and impaired calcium and phosphorus metabolism.

Non-sugar diabetes in children

Diabetes insipidus is a disease caused by absolute or relative deficiency of antidiuretic hormone, characterized by polyuria and polydipsia. Antidiuretic hormone stimulates water reabsorption in the collecting tubules of the kidneys and regulates water metabolism in the body.