Recognizing Symptoms of Galactosemia
Galactosemia symptoms can manifest in infants shortly after consuming formula or breast milk containing lactose. Within the first few days of life, affected infants may exhibit various signs indicating the presence of galactosemia. These symptoms include lethargy, excessive vomiting, diarrhea, irritability, convulsions, weight loss, and a refusal to eat. Additionally, bacterial infection and jaundice are among the early signs of this condition. Galactosemia may also cause liver enlargement and the accumulation of fluid in the abdomen, leading to swelling. If left untreated, infants with galactosemia may experience weakness, tissue wasting, and significant weight loss. Furthermore, the development of cataracts and cirrhosis of the liver is possible.
Complications of Galactosemia
Galactosemia can lead to various complications, even if infants receive prompt treatment. One of the common complications is the development of learning and developmental delays, as well as speech problems later in life.
Children with galactosemia often experience different types of learning disabilities. These may include delays in speech acquisition, difficulties with math and reading, speech disorders, and challenges with fine and gross motor skills.
Neurological problems can also arise in individuals with galactosemia. These may manifest as issues with balance, walking, and tremors. Other neurological symptoms include involuntary muscle contractions, coordination problems, and an inability to accurately estimate distance during muscular activity, known as dysmetria.
Additionally, women with classic galactosemia commonly face premature ovarian insufficiency, resulting in the ovaries ceasing to release eggs earlier than expected. As a consequence, most women with galactosemia are unable to conceive and have children.