Category: Rare metabolic disorders

Creatine deficiency syndromes (CDS) are a group of inborn errors of metabolism that can cause severe neurodevelopmental issues, with the specific prognosis differing significantly across the three known types.

Over 1 in 25,000 newborns in the United States are diagnosed with phenylketonuria (PKU), a rare genetic disorder requiring a lifelong, low-protein diet to manage blood phenylalanine levels. This makes finding safe alternatives for high-protein foods like eggs a critical step in dietary management, begging the question, 'what is the egg substitute for PKU?'.