What is the clinical outcome of untreated Galactosemia?

In untreated Galactosemia, the accumulation of galactose due to the body's inability to metabolize it properly leads to a variety of serious health complications. One of the earliest and most significant consequences of this metabolic disorder is severe liver damage. The liver is crucial for processing galactose, and its impairment can result in symptoms such as jaundice, which reflects the liver's inability to process bilirubin, leading to a buildup in the bloodstream.

Additionally, untreated Galactosemia can lead to other severe complications such as cataracts, intellectual disability, and sepsis due to infections. These risks underline the importance of early diagnosis and strict dietary management to prevent long-term damage. While it might be plausible for those with managed galactosemia to achieve optimal growth or experience only minor delays in development, these outcomes cannot be expected if the condition is left untreated.

Since Galactosemia manifests in infancy and can lead to acute health crises, the notion of adult-onset symptoms is misleading. The condition typically presents early in life, and symptoms manifest soon after the ingestion of lactose-containing foods. Thus, the serious implications of untreated Galactosemia underscore the accuracy of identifying severe liver damage and jaundice as a primary clinical outcome.