For families with a history of inherited metabolic disorders, understanding how to reduce the risk of birth defects in children through screening and preventive measures is crucial.
Inherited metabolic disorders can lead to newborns experiencing hypoglycemia symptoms, including refusal to feed, vomiting, seizures, and respiratory distress. If the hypoglycemia symptoms do not improve significantly after feeding, and are accompanied by severe ketosis or other metabolic disturbances, or if the symptoms occur frequently, it may indicate an inherited metabolic defect.
Children with severe inherited metabolic disorders may have sequelae, primarily affecting liver and kidney function, but the risk of intellectual impairment is relatively low, and the risk of physical disability is also low.