What are the symptoms of galactosemia?

Condition analysis:
The disease usually appears in the first few days of life following the ingestion of breast milk or formula. Vomiting, liver enlargement, and jaundice are often the earliest signs of the disease, but bacterial infections (often severe), irritability, failure to gain weight, and diarrhea may also occur. If unrecognized in the newborn period, the disease may produce liver, brain, eye and kidney damage.

Instructions:
Complications of Galactosemia
Cataracts: Some individuals with galactosemia may develop cataracts, a clouding or opaqueness of the lens of the eye. People with galactosemia may develop cataracts because of increased levels of galactose and the conversion of galactose to the alcohol galactitol in the eye. The diffusion of galactitol causes swelling and increased pressure in the eye lens, which can lead to cataracts. Once dietary intake of lactose and galactose is restricted, cataracts usually clear up.

Neurological problems: Some people with galactosemia develop neurological problems, even if they follow a lactose and galactose-free diet. Patients with galactosemia may have learning disabilities, such as difficulty learning speech or language, or they may have impaired motor skills, such as difficulty walking or maintaining balance. Some patients also exhibit involuntary muscle movements (tremors), especially in the hands.

Ovarian failure: About 60% of females with galactosemia develop ovarian failure. In these patients, the ovaries stop working, which causes infertility. The reason for premature ovarian failure in patients with galactosemia is currently not known.