The injury can begin prenatally in the affected fetus via transplacental delivery of galactose or by endogenous production of galactose in the fetus. Physical Exam: hepatomegaly , hypotonia , edema, ascites, full fontanelle, encephalopathy , and excessive bruising or bleeding. Most states include galactosemia in their newborn screen. However, many babies who test positive on the newborn screen do not have classical galactosemia, so it is important to consider the secondary causes of hypergalactosemia.
An infant with a positive newborn screen should be changed immediately to a soy-based infant formula and evaluated for signs of sepsis and hepatic failure. The screen should also be repeated. If the second screen is positive, the gold standard for diagnosis is a quantitative assay of erythrocyte GALT which measures the level of enzyme activity.
Conversely, affected infants may become symptomatic before screening results are available. Testing the urine for reducing substances such as galactose is a quick test which can be done in the pediatrician's office to gauge the level of suspiscion for galactosemia, however this test should be interpreted carefully as it can result in false positives and negatives. With proper dietary management, most patients with classic galactosemia are healthy and intellectually normal during childhood, but frequently develop symptoms during adolescence and adulthood.
It is not clear why dietary restriction of galactose fails to prevent long-term complications , current theories include the impact of endogenous production of galactose, accumulation of galactosephosphate or abnormal galactosylation. If a neonate presents in crisis and classical galactosemia is suspected or confirmed, restriction of dietary galactose should be always be started immediately. Additionally, Vitamen K supplementation, FFP administration, initiation of antibiotics with good gram negative coverage and implementation of phototherapy should be considered.
The treatment for galactosemia is to minimize dietary galactose by excluding milk and dairy products. Soy formulas can be used but remember, some lactose free formulas do contain galactose. Coronavirus Resource Center.
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Twitter Facebook. This Issue. May Access through your institution. Add or change institution. Oxford Academic. Select Format Select format. Permissions Icon Permissions. More common symptoms and signs suggestive of galactosemia are as follows 4 : poor feeding or weight gain vomiting diarrhea jaundice cataracts lethargy hypotonia hepatomegaly encephalopathy full fontanel bleeding or easy bruising There are also several reports of galactosemic infants presenting with Escherichia coli sepsis 5.
Google Scholar Crossref. Search ADS. Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group. Monitoring neonatal hypoglycemia with the Accu-chek advantage II glucose meter: The cautionary tale of galactosemia. Google Scholar PubMed. Issue Section:. Download all slides. View Metrics. Email alerts Article activity alert.
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