Inborn Errors of Metabolism: A Review Article

Abstract

Inborn metabolic errors are a diverse range of illnesses that can be inherited or result from natural mutation. Non-fulfillment of metabolic processes involved in the breakdown or storage of carbohydrates, fatty acids, or proteins causes several illnesses. Inborn errors of metabolism (IEM) are hereditary illnesses caused by mutations in genes that code for metabolism-related proteins. In one out of every 2000 newborns, a metabolic mistake is present. Carbohydrate metabolism, protein metabolism, fatty acid oxidation, and glycogen storage are all disrupted by IEM. Dietary nutrients are broken down in the body into glucose (the body's principal energy source) and other metabolic products, which are then eliminated. Patients with numerous glucose metabolism abnormalities present early in life (usually in the neonatal period). They might present with symptoms similar to Hypoglycemia, brady and tachycardias, hypothermia or hyperpyrexia, seizures, and hypotonia are several symptoms that septic newborns can have. In an emergency, a final diagnosis of inborn metabolic abnormalities is not a reasonable aim. However, because lab abnormalities in these patients may be transient, more blood should be drawn for further testing while they are still in the early stages. The PALS/ACLS method is used to administer vigorous resuscitation to these individuals. If you suspect a patient has inborn mistakes, don't give them anything by mouth (NBM). Because the emergency physician has no way of knowing which section of the metabolic pathway is malfunctioning, it's best to keep the patient from using his or her natural pathways for carbohydrate metabolism, metabolite clearance, or accessing nutrients of stored energy.  It is therefore important for primary care providers to know how to recognize those conditions, manage them in the temporary while awaiting definitive diagnosis and refer them to the appropriate higher center for collaborative management of these patients.