Genetic and Metabolic Disorders in Pediatrics and Neonatology

Certain types of birth defects, chronic diseases, developmental issues, and sensory deficits that are inherited from one or both parents are included in the category of genetic disorders. Down syndrome, Turner syndrome, Alzheimer's disease, and other genetic conditions are among the most prevalent. The severity of the disorder, the organs affected, and the type of disorder all influence the symptoms. The chemical reactions in the body's cells that transform the food we eat into the chemical compounds that keep us alive are referred to as the metabolism. When abnormal chemical reactions interfere with normal metabolic processes, this results in a metabolic disorder.

There are numerous metabolic disorders, but the majority are extremely uncommon. Phenylketonuria (PKU) is the metabolic disorder with the highest prevalence. Galactosemia, MCAD (medium-chain acyl-CoA dehydrogenase deficiency), Prader-Willi syndrome, and other fatty acid utilization disorders are additional examples. The utilization of protein, fat, carbohydrates or a combination of these can be affected by metabolic disorders. The majority are genetic conditions passed down through families. Although metabolic disorders last a lifetime, early treatment typically has the ability to alter their natural course.


Track 10.1 Genetical Disorders in pediatrics and neonatology

Track 10.2 Metabolic Disorders in pediatrics and neonatology

Track 10.3 Signs and Symptoms

Track 10.4 Prevention and Treatment

Track 10.5 Management

Related Conference of Pediatrics