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Some countries
including Australia routinely screen all newborns for galactosemia,
unfortunately not all symptoms are often available before the infant presents
these symptoms. Early recognition of these symptoms and immediate action with
diet and supplements can prevent any serious morbidity and mortality cases. (4)

Symptoms between
newborns and older galactosamics include severe jaundice; it is inflamed liver
or obstructed bile duct, this is found by a yellow tongue in the skin and white
of the eyes, dark urine and itchiness. Other symptoms include bacterial
infections, difficulty gaining weight and feeding as well as small cataracts.
Common symptoms in older children’s as well as adolescents and adults; learning
difficulties, speech developmental delays, ovarian failure for females and
cataracts. It’s important to find out if there is an illness early as many
symptoms of galactoseamia is not uniform in the sense that others may show many
symptoms while many will only show a few. Infants will develop weakness,
diarrhoea and vomiting after consuming milk whereas other infants may just
refuse to eat. If left untreated patients may develop bacterial infections and
can lead to death if not treated which is caused by the build-up of galactose
causing intestinal wall damage. (1, 5)

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Management

Infants should avoid
the following; breast milk, milk and milk products, these foods are major
sources of lactose which consists of a unit of galactose. Lactose in general
should be avoided as it is included in many flavourings and some medication.
Infants are however allowed to consume soy formula available in Australia and
New Zealand, those being Isomil, Kari care soy and s26 soy. For those between
children up until elderly; they should avoid chickpeas, beans or gram flour
that are commonly seen in hummus, dahl and felafel. Fermented soy products,
miso, tempeh contains lactose.  Other
foods that are allowed to consume in small quantities are lima beans, kidney
beans and lentils as well as ‘offal’ organ meats (liver, kidney and brains). No
restrictions are made on fruits and vegetable; however galactose may be present
in cereals and some vegetables (canned beats. Cherries, celery, kiwifruit,
plums, dried figs and canned sweet corn) and the protein in which eggs contain,
as well as carbohydrates in shell fish Milk substitutes, mature cheeses and
calcium supplements are highly recommended in order to intake calcium ensuring
a nutritional adequacy. (1)

 

Nutrition plays a
very important role in maintaining any unwanted effects due to galactosemia. A 4-month-old
male infant was delivered at full term. His family had no history of known
inherited disease, due to an aspiration syndrome he only started breast feeding
on his third day of life. After two days of consuming lactose he developed a
jaundice (inflammation or abnormalities of liver cells). He received antibiotics
for 14 days after the infectious problems resided he was referred to another
hospital for further testing. He was found to be lethargic (drowsy and unenergetic),
hepatosplenomegaly (enlarged liver). He was confirmed to have a deficiency and
increased excretion of galactose, galactitol was discovered in his urine. His
diet was immediately changed from breast feeding to non-lactose diet and soy
milk. Five months later his clinical features and clinical laboratory measurements
improved. The level of galactitol excretion in urine had declined and his liver
injury was resolving. 4 years later he has minimal intellectual difficulties as
a change in diet decreased any serious problems. (6)

 

Conclusion and Recommendations

Galactosemia occurs
when ‘Galactose-1-phosphate uridyl transferase'(GALT) is missing or simply not
working. As the primary role of this enzyme is to convert galactose into
glucose this can be crucial as glucose builds up in the blood in large amounts.
(1,10)

Dietary control
has been the main form of treatment for galactosemia and has be shown to work. (1)

Although diet has
shown to work with little knowledge about this illness the majority of the
population are unable to recognise symptoms in order to take action quickly for
themselves whether they be young or for their newborn babies.

Future research includes;
whether or not patients should be treated in regard to finding a way to cut off
the affect enzyme, ways to open up pathways into a broader diet for those
patients after childhood, new biomarkers for biochemical follow up to address reproductive
function which is often affected due to galactosemia. (7)