Inborn errors of metabolism are a group of genetic disorders that result from defects in the enzymes responsible for breaking down or processing substances in the body. These disorders typically manifest in infancy or early childhood and can affect the metabolism of proteins, fats, or carbohydrates. Examples include phenylketonuria (PKU), where the body cannot process the amino acid phenylalanine, and maple syrup urine disease, where branched-chain amino acids are not properly metabolized. These metabolic disruptions can lead to the accumulation of toxic substances, causing neurological damage, developmental delays, or organ dysfunction if untreated. Symptoms vary depending on the specific disorder but may include failure to thrive, vomiting, seizures, and intellectual disabilities. Early diagnosis, often through newborn screening, is critical for preventing severe complications. Treatment typically involves dietary modifications, enzyme replacement therapy, and, in some cases, medications to manage the buildup of harmful substances. With prompt intervention, many children with inborn errors of metabolism can lead normal or near-normal lives.
Get Instant Call back in 15 minutes
