What are Common Protein-Related Neonatal Disorders?
Several neonatal disorders are linked to protein abnormalities. These include:
- Phenylketonuria (PKU): A metabolic disorder caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine, which can cause intellectual disabilities if not managed. - Maple Syrup Urine Disease (MSUD): An inherited disorder affecting the metabolism of branched-chain amino acids, leading to toxic levels in the body. - Congenital Hypothyroidism: Often linked to protein synthesis issues, this condition can result in growth failure and intellectual disabilities if untreated.