In this video I have briefly described the general approach to an infant with suspected inborn errors of metabolism.
Metabolic disorders can be classified using a variety of schemes based on the clinical presentation, including the age of onset, the tissues or organ systems involved, the defective metabolic pathways, or the subcellular localization of the underlying defect. These classification schemes have differing utility when considering approach to diagnosis, management, and screening strategies. The clinical presentation and long-term prognosis have the most bearing on management of children with genetic metabolic disorders.
Genetic metabolic disorders result from the deficiency of an enzyme, its cofactors, or biochemical transporters that lead to the deficiency of a required metabolite, the buildup of a toxic compound, or a combination of both processes. Understanding which of these mechanisms is involved and if the effects are systemic or restricted to the local tissue enables a rational approach to diagnosis, therapy, and management.
#baby #metabolism #iem #approach
Негізгі бет Approach To Newborn Infant With Suspected Inborn Error Of Metabolism | IEM
Пікірлер: 5