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While awaiting confirmatory testing for classic galactosemia, the infant is typically fed a soy-based formula, as human and cow milk contains galactose as a component of lactose. [4] Confirmatory testing would include measurement of enzyme activity in red blood cells, determination of Gal-1-P levels in the blood, and mutation testing.
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. [20]
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.
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]
If a baby with DG is switched to a low-galactose diet due to concern about elevated galactose metabolites, the healthcare provider may recommend a galactose challenge to re-evaluate galactose tolerance before the restrictive diet is discontinued. Most infants or young children with DG who are followed by a metabolic specialist are discharged ...
Deficiency of GALT causes classic galactosemia. Galactosemia is an autosomal recessive inherited disorder detectable in newborns and childhood. [12] It occurs at approximately 1 in every 40,000-60,000 live-born infants.
Approximately 70% of galactosemia-causing alleles have a single missense mutation in exon 6. A milder form of galactosemia, called Galactokinase deficiency, is caused a lack of the enzyme uridine diphosphate galactose-4-epimerase which breaks down a byproduct of galactose. This type of is associated with cataracts, but does not cause growth ...
Contraindications to breastfeeding are those conditions that could compromise the health of the infant if breast milk from their mother is consumed. Examples include galactosemia, untreated HIV, untreated active tuberculosis, Human T-lymphotropic virus 1 or II, uses illicit drugs, or mothers undergoing chemotherapy or radiation treatment.