Diseases of children (pediatrics)

Disorder of fructose metabolism

Deficiencies of enzymes involved in fructose metabolism may be asymptomatic or cause hypoglycemia. Fructose is a monosaccharide that is present in high concentrations in fruits and honey, and is also a component of sucrose and sorbitol.

Defects in ornithine cycle enzymes

Defects of urea cycle enzymes are characterized by hyperammonemia under conditions of catabolism or protein loading. Primary urea cycle disorders include carbamoyl phosphate synthetase (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, arginine succinate synthetase deficiency (citrullinemia), argininosuccinate lyase deficiency (argininosuccinic aciduria), and arginase deficiency (argininemia).

Disorder of methionine metabolism

Homocystinuria - this disease is a consequence of the deficiency of cystathionine beta synthetase, which catalyzes the formation of cystathione from homocysteine and serine, is inherited in an autosomal recessive manner. Homocystinuria - this disease is a consequence of the deficiency of cystathionine beta synthetase, which catalyzes the formation of cystathione from homocysteine and serine, is inherited in an autosomal recessive manner.

Disorder of metabolism of branched-chain amino acids

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

Familial periodic paralysis

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

Chromosomal deletion syndromes

Chromosomal deletion syndromes are the result of the loss of a part of a chromosome. In this case, there is a tendency to develop severe congenital malformations and significant delays in mental and physical development.

Bacterial tracheitis (pseudomembranous croup)

Bacterial tracheitis (pseudomembranous croup) is a bacterial infection localized in the trachea. Bacterial tracheitis is a rare disease that occurs in children of any age. It is most often caused by Staphylococcus aureus, group A premolytic streptococcus, and Haemophilus influenzae type b.

Respiratory distress syndrome in newborns

Respiratory distress syndrome is caused by a deficiency of surfactant in the lungs of infants born at less than 37 weeks' gestation. The risk increases with the degree of prematurity. Symptoms of respiratory distress syndrome include shortness of breath, use of accessory muscles of breathing, and nasal flaring, beginning shortly after birth. Diagnosis is clinical; risk can be assessed prenatally with lung maturity tests.

Pulmonary air leakage syndromes

Lung air leak syndromes involve the spread of air outside of its normal location in the airspaces of the lungs.

Persistent pulmonary hypertension of newborns

Persistent pulmonary hypertension of the newborn is the persistence or return of pulmonary arteriolar constriction, causing a significant decrease in pulmonary blood flow and a right-to-left shunt. Symptoms and signs include tachypnea, chest wall retractions, and marked cyanosis or decreased oxygen saturation that is unresponsive to oxygen therapy. Diagnosis is based on history, examination, chest radiography, and response to oxygen supplementation.