Galactosemia is a genetic condition that prevents the breakdown of galactose, found in dairy products. Symptoms include a distended stomach, jaundice, slow growth, and eye, liver, kidney, and brain damage. Blood tests can diagnose the condition, and if left untreated, it can cause intellectual difficulties and eye damage.
Galactosemia is a medical condition resulting from the inability to break down a substance called galactose. Typically found in dairy products, galactose requires specific enzymes to break it down, and if an enzyme is not present, disease symptoms ensue. The visual symptoms of galactosemia, which are typically seen almost immediately when an infant drinks breast milk or other milk, include a distended stomach, jaundice, and slow growth. Blood tests for substances such as glucose and amino acids can help diagnose symptoms of galactosemia even before obvious physical problems arise.
Since galactosemia is a disease of the metabolic system, symptoms of galactosemia are usually noticed very early in life. Galactose is an integral component of milks, including breast milk and cow’s milk formula. Although all cases of galactosemia are the result of a child lacking a functional gene for an enzyme that can break down galactose, several genes are involved.
The absence of the necessary enzymes means that children who ingest galactose cannot break it down in the normal way. Instead, galactose, and galactose-based molecules, collect within the body and produce harmful effects. Four main areas of the body are most affected, the eyes, liver, kidneys and brain. Liver damage can produce the yellowing of jaundice and the medical finding of an enlarged liver. Fluid also builds up in the stomach, and children don’t gain as much weight as is normal for children their age.
Blood tests can identify the presence of galactosemia if it is suspected. Low blood sugar is one of the symptoms of galactosemia, as is the presence of amino acids in the blood. Amino acids are the building blocks of proteins and their presence in blood or urine is a significant medical discovery. Ketones in urine, which are molecules that form when a body breaks down its own tissue, are also a sign of the disease. Hospital laboratories may also be able to test your baby’s blood for the presence or absence of the enzymes involved.
A lethargic baby who refuses to breastfeed and who is more irritable than normal may be at risk for galactosemia. As they age, if the condition is not adequately controlled, children may suffer from slower-than-usual physical development and may also experience intellectual difficulties. Eye damage can produce cataracts; since the person is genetically unable to metabolize galactose, these problems can arise if dairy products are consumed at any time during the individual’s life.
Protect your devices with Threat Protection by NordVPN
