Diseases of children (pediatrics)

Disturbance of fructose metabolism

Deficiency of enzymes involved in the metabolism of fructose can be asymptomatic or cause hypoglycemia. Fructose is a monosaccharide, which is present in high concentrations in fruits and honey, and is also a component of sucrose and sorbitol.

Defects of ornithine cycle enzymes

Defects of the ornithine cycle enzymes are characterized by hyperammonemia under conditions of catabolism or protein loading. Primary disorders of the ornithine cycle include a deficiency of carbamoyl phosphate synthetase (CFS), deficiency of arginine succinate synthetase (citrullineemia), deficiency of arginine succinate lyase (arginine succinate aciduria) and arginine deficiency (argininemia).

Metabolic Metabolism Disorders

Homocystinuria - this disease is a consequence of a deficiency of cystathionine betasynthesis, which catalyzes the formation of cystathion from homocysteine and serine, is inherited by an autosomal recessive type. Homocystinuria - this disease is a consequence of a deficiency of cystathionine betasynthesis, which catalyzes the formation of cystathion from homocysteine and serine, is inherited by an autosomal recessive type.

Disruption of the metabolism of branched-chain amino acids

Valine, leucine and isoleucine are branched-chain amino acids; deficiency of enzymes involved in their metabolism, leads to the accumulation of organic acids with severe metabolic acidosis.

Family periodic paralysis

Family periodic paralysis is a rare autosomal condition characterized by episodes of flaccid paralysis with loss of deep tendon reflexes and a lack of muscle response to electrical stimulation. There are 3 forms: hyperkalemic, hypokalemic and normokaliemic.

Syndromes of chromosomal deletions

Syndromes of chromosomal deletions are a consequence of the loss of a part of the chromosome. At the same time there is a tendency to develop severe congenital malformations and a significant delay in mental and physical development.

Bacterial tracheitis (pseudomembranous cereal)

Bacterial tracheitis (pseudomembranous cereal) is a bacterial infectious disease with localization in the trachea. Bacterial tracheitis is a rare disease that occurs in children of any age. Most often it is caused by Staphylococcus aureus, pre-moly Streptococcus group A and Haemophilus influenzae type b.

Respiratory distress syndrome of newborns

Respiratory distress syndrome is caused by the inadequacy of the surfactant in the lungs of children born less than 37 weeks of gestation. The risk increases with the degree of prematurity. Symptoms of respiratory distress syndrome include shortness of breath, the involvement of additional muscles in the act of breathing and swelling of the wings of the nose that occur shortly after birth. Diagnosis is based on clinical data; Prenatal risk can be assessed using lung maturity tests.

Syndromes of air leakage from the lungs

Syndromes of air leakage from the lungs mean the spread of air outside its normal location in the airspace of the lungs.

Persistent pulmonary hypertension of newborns

Persistent pulmonary hypertension of newborns is a persistence or return to the state of constriction of the arterioles of the lungs, which causes a significant decrease in blood flow in the lungs and the right venting of the blood. Symptoms and signs include tachypnea, the entrainment of malleable areas of the chest and pronounced cyanosis or a decrease in oxygen saturation that do not respond to oxygen therapy. The diagnosis is based on anamnesis, examination, radiography of the chest and response to the oxygen subsidy.

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