While protein is an important nutrient for building bodily tissues, dispersing oxygen, and other vital functions, not everyone can process it effectively due to certain medical conditions. These conditions are known as disorders of protein digestion, and they can have serious effects without timely treatment.
When a person eats food containing protein, the nutrient makes its way to the stomach where it is broken down by an enzyme known as pepsin. As the nutrient continues to travel through the small intestine, it is reduced into progressively smaller components to ensure it can penetrate the intestinal lining. When a person has a protein digestion disorder, malfunctions can occur at every stage of digestion to prevent the body from sufficiently processing protein.
People with lysinuric protein intolerance are unable to digest and use certain amino acids, which are essential for the creation of protein. That means consuming foods rich in protein can lead to symptoms like nausea and vomiting. A lack of protein can also cause other health problems, such as swelling in the abdomen and extremities, skin issues, and changes in mood.
PKU is a congenital disease, meaning that it is present from birth. It results from genetic changes the prevent the body from producing an enzyme that processes an amino acid called phenylalanine. Increased levels of phenylalanine are toxic and can significantly impact brain function, leading to delayed development and intellectual disabilities.
With maple syrup urine disease, the body is unable to process certain amino acids. As a result, they can accumulate in the body and cause major complications like chronic headaches, pancreatitis, brain damage, and even death. As a genetic condition, symptoms of maple syrup urine disease often present within two days of birth, but they can also appear later in childhood.