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Diagnosis is based upon identification of symptoms, medical history, family history, and laboratory tests. Blood tests may show high levels of ferritin and low, normal, or high levels of transferrin saturation, depending on the form of hemochromatosis. The diagnosis must be confirmed by genetic testing for SLC40A1 mutations. [14]
Regardless, median galactose-1-phosphate levels act as the most accurate predictors of the severity of symptoms associated with Type III galactosemia. [10] Blockage of the Leloir pathway by GALE deficiency or dysfunction activates alternate pathways of glucose metabolism and leads to galactitol and galactonate formation.
The only treatment for classic galactosemia is eliminating lactose and galactose from the diet (e.g. exclusion of dairy products containing lactose). [ 9 ] [ 20 ] [ 21 ] Lactose-restricted diet is efficient in resolving acute complications; however, it is not sufficient to prevent long-term complications affecting the brain and female gonads ...
Patients with higher levels of residual enzyme activity can typically tolerate higher levels of galactose in their diets. As patients get older, dietary restriction is often relaxed. [2] With the increased identification of patients and their improving outcomes, the management of patients with galactosemia in adulthood is still being understood.
[34] [35] [36] In premenopausal females, normal range of serum ferritin is between 12 and 150 [34] or 200 [35] ng/mL (330 or 440 pmol/L). [36] In those with hemochromatosis, the serum ferritin level correlates with the degree of iron overload. [7] Ferritin levels are usually monitored serially in those with hemochromatosis to assess response to ...
The treatment for galactosemic cataract is no different from general galactosemia treatment. In fact, galactosemic cataract is one of the few symptoms that is actually reversible. Infants should be immediately removed from a galactose diet when symptoms present, and the cataract should disappear and visibility should return to normal. [12]
Specifically, when exposed to high levels of dietary galactose, a sugar abundant in breast milk, milk formula, and most dairy products, [5] infants with DG may show elevated levels of galactose and galactose metabolites such as galactose-1-phosphate (Gal-1P) and galactitol in blood and urine, respectively.
The development of early cataracts in homozygous affected infants is fully preventable through early diagnosis and treatment with a galactose-restricted diet. Some studies have suggested that, depending on milk consumption later in life, heterozygous carriers of galactokinase deficiency may be prone to presenile cataracts at 20–50 years of age.