Tag: Rare metabolic disorder

Congenital disorders of glycosylation (CDG) comprise over 160 rare genetic conditions affecting cellular processes. Understanding the specific dietary needs for congenital disorder of glycosylation is crucial for managing its diverse symptoms, as nutritional therapies are key for certain subtypes.

Phenylketonuria (PKU) affects approximately 1 in 25,000 newborns in the United States, making newborn screening vital for early diagnosis. A phenylketonuria free diet is the primary treatment for this genetic disorder, preventing the buildup of a harmful amino acid called phenylalanine. This specialized, lifelong eating plan restricts high-protein foods while ensuring adequate nutrition through medical formulas and careful food choices.