Neonates with GSDs may present with a variety of clinical symptoms depending on the type of GSD. Common clinical manifestations include: - Hepatomegaly: Enlarged liver due to glycogen accumulation. - Hypoglycemia: Low blood sugar levels leading to irritability, seizures, and poor feeding. - Muscle Weakness: Particularly in types that affect muscle enzymes. - Cardiomyopathy: In types like Pompe disease, the heart muscle may be affected, leading to heart failure. - Failure to Thrive: Poor growth and weight gain.
