Galactosemia
Doctor: If my child has a presumptive positive screening for galactosemia and needs to undergo a third confirmatory test, does that mean my child definitely has galactosemia? I'm really worried.
Isn't it said that babies will become lethargic after drinking milk? However, my child doesn't frequently seem lethargic and hasn't had any vomiting.
I'm really concerned about whether my child truly has galactosemia.
Does the absence of vomiting mean that my child does not have galactosemia?
Zhuó jí de māmā, 20~29 year old female. Ask Date: 2006/07/12
Dr. Jian Yingxiu reply Rare Disease
If the screening for galactosemia shows a false positive, a third retest will be necessary, so please wait for the screening results.
If the galactose blood levels are high enough to pose a risk, you will be directly notified to go to the hospital for further examination.
Galactosemia can be classified into three types, and the onset of the disease is related to its severity.
The absence of symptoms does not rule out the possibility of galactosemia.
Reply Date: 2006/07/12
More Info
Galactosemia is a rare genetic disorder that affects how the body processes galactose, a sugar found in milk and dairy products. When a newborn screening test indicates a positive result for galactosemia, it means that the initial test has detected elevated levels of galactose or its metabolites in the blood. However, it is important to understand that a positive screening test does not confirm the diagnosis of galactosemia; it merely indicates that further testing is necessary.
In your case, the fact that your child has been called back for a third screening test suggests that the healthcare provider is taking a cautious approach. It is common practice to conduct multiple tests to confirm or rule out a diagnosis, especially in cases of suspected metabolic disorders like galactosemia. The initial screening tests can sometimes yield false positives due to various factors, including the infant's diet or other health conditions.
Regarding your concerns about symptoms, it is true that some infants with galactosemia may exhibit symptoms such as lethargy, vomiting, jaundice, and poor feeding, particularly after consuming milk. However, not all infants with galactosemia will present with these symptoms, especially in the early stages. Some may appear healthy and show no signs of distress, which can make the diagnosis more challenging.
The absence of vomiting or excessive sleepiness does not definitively rule out galactosemia. Some infants may have milder forms of the disorder or may not exhibit symptoms until they are exposed to galactose in their diet. Therefore, it is crucial to follow up with the recommended testing and consult with a pediatrician or a specialist in metabolic disorders.
If the subsequent tests confirm that your child has galactosemia, it is essential to take immediate action to manage the condition. This typically involves a strict elimination of all sources of galactose from the diet, which means avoiding milk and dairy products, as well as certain other foods that contain galactose. Your healthcare provider will guide you on how to ensure your child receives adequate nutrition while avoiding galactose.
In summary, while a positive screening test for galactosemia is concerning, it does not mean that your child has the condition. The follow-up tests are crucial for an accurate diagnosis. It is understandable to feel anxious during this time, but staying informed and working closely with your healthcare team will help you navigate this situation. If you have any further questions or concerns, do not hesitate to reach out to your child's doctor for clarification and support.
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