What is metabolism or metabolism?
Metabolism or metabolism is a series of complex chemical events and reactions that take place at the level of cells in an organ inside the body and ultimately lead to obtaining useful substances for the body for the functioning of the organs and the continuation of life.
An example of this is the metabolism of sugars, for example: after eating the sugars (carbohydrates), they reach the intestines where they are digested, then absorbed from the digestive system to reach the blood, then reach the liver cells and other cells to undergo complex chemical reactions in which many yeasts and enzymes interfere so that the sugars are transformed In the end, the complex is transformed into energy and other substances that all cells of the body benefit from.
And the interruption of this series of reactions due to a congenital defect or a deficiency of a certain enzyme leads to a defect in the metabolism of the substance and the occurrence of a metabolic disease.
Diseases and metabolic disorders are rare in children, but they are responsible for a group of diseases and a significant mortality rate in these children.
As for congenital metabolic errors and diseases in children, they are often hereditary diseases that occur when a defective protein is formed in a certain step of the metabolic pathway, which leads to the accumulation of precursors and toxic metabolites of excess protists with a deficiency of the products necessary for normal metabolism. (Precursors and toxic metabolites are substances whose metabolism has not been completed and may accumulate in some organs in metabolic disease and lead to a defect in the functioning of this organ, such as the liver or the brain.....)
Certain racial or ethnic groups are at increased risk for certain congenital metabolic errors due to inheritance, intermarriage, and consanguinity in some countries of the world.
Pediatric Clinic Copyright ©childclinic.net
What is the age at which metabolic disease is detected in a child?
The clinical manifestations and the age at which the metabolic disease begins in the child differ:
Urea cycle defects and organic eosinophilia manifest early in life as severe metabolic decompensation.
Disorders of carbohydrate metabolism and fatty acid oxidation usually present with drowsiness, encephalopathy, and hypoglycemia after reduced carbohydrate intake or fasting.
Lysosomal storage disorders are characterized by progressive hepatomegaly, splenomegaly, and sometimes neurological deterioration and regression of the child''s abilities after the child was normal during the first months after birth.
Pediatric Clinic Copyright ©childclinic.net
When should the suspicion of a metabolic disease in a child?
Symptoms and signs that lead to suspicion of a metabolic disease and congenital metabolic errors in the infant and child are:
Vomiting and acidosis after starting to breastfeed
Abnormal smell of urine or sweat in a child
Hepatosplenomegaly (enlarged liver and spleen in a child)
Hyperemia and elevated blood ammonia
Early infant mortality in the family
Failure to thrive in a child
Decreased development and capabilities of the child
Mental retardation in a child
Convulsions and spasms in the child
