Nutritional Management of Patients with Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Enteral nutrition encompasses various methods of delivering nutrition directly to the gastrointestinal (GI) tract, bypassing traditional oral intake. It is particularly beneficial for patients who cannot eat by mouth but have a functioning digestive system. Key methods include nasointestinal feeding, gastrostomy, and jejunostomy, each suited to different clinical scenarios based on the patient's needs and condition.
Nasointestinal Feeding
Nasointestinal feeding involves placing a tube...

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...

Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...

Enteral nutrition delivers nutrients directly to the stomach or small intestine through a tube. This method is appropriate for patients who cannot eat but still have a functioning digestive system. It is also beneficial for individuals with swallowing difficulties, anorexia, malabsorption, or those who have undergone gastrointestinal (GI) surgery.
Orogastric (OG) and nasogastric (NG) feeding are two standard methods used for enteral nutrition. Enteral nutrition is often preferred over...

Parenteral Nutrition (PN) delivers essential nutrients directly into the bloodstream, bypassing the digestive system. It is commonly used for individuals with severe digestive disorders or conditions that prevent normal nutrient absorption.
PN can be administered through two primary routes:
1. Central Parenteral Nutrition (CPN):
CPN involves delivering a high concentration of nutrients through a large vein. This is typically achieved using a Peripherally Inserted Central Catheter (PICC) or,...