10 Galactosemia Symptoms

By chris

Reviewed: dr. vanta

Article Sources

Article Sources

• 1. 'Galactosemia: MedlinePlus Genetics.' MedlinePlus, U.S. National Library of Medicine, 18 Aug. 2020, medlineplus.gov/genetics/condition/galactosemia/
• 2. 'Test ID: GCT Galactosemia Reflex, Blood.' GCT - Overview: Galactosemia Reflex, Blood, www.mayocliniclabs.com/test-catalog/Overview/84360
• 3. Claire McCarthy, MD. 'Newborn Jaundice: What Parents Need to Know.' Harvard Health, 4 Feb. 2021, www.health.harvard.edu/blog/newborn-jaundice-what-parents-need-to-know-2021020421886
• 4. D;, Stambolian. 'Galactose and Cataract.' Survey of Ophthalmology, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/3043741/

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Galactosemia is an inherited disorder that prevents infants from processing a type of sugar called galactose.¹‘Galactosemia: MedlinePlus Genetics.’ MedlinePlus, U.S. National Library of Medicine, 18 Aug. 2020, medlineplus.gov/genetics/condition/galactosemia/ While it's manageable with medical care, galactosemia can pose a serious threat to infants if it advances to the later stages. It's important to notice key symptoms early so the condition can be addressed as quickly as possible.

In addition to the classic form of galactosemia, there are two less-common types that can have similar but less severe symptoms. Parents who suspect their infant may have galactosemia should see a doctorimmediately to discuss the next steps, as doctors commonly put infants with galactosemia on a low-galactose diet.

Failure to Thrive

Infants who fail to thrive grow and gain weight much more slowly than expected. When a baby isn't growing normally, it's commonly a sign that the infant isn't getting sufficient nutrition. Doctors typically look to identify the cause of the nutritional deficiency.²‘Test ID: GCT Galactosemia Reflex, Blood.’ GCT - Overview: Galactosemia Reflex, Blood, www.mayocliniclabs.com/test-catalog/Overview/84360 In the case of infants with galactosemia, the child isn't processing the galactose it consumes. As a result, galactose builds up in the blood.

This can be serious and have long-term consequences for the growing child, depending on the duration and cause of the symptom. Failure to thrive is sufficient reason for concerned parents to bring their infant to a specialist immediately.