A metabolic disorder results when an enzyme responsible for the breakdown of our food is defective which results in compounds, also known as metabolites, accumulating in blood or urine. Incorrect metabolism means your body might have too much or too little of a metabolite which can have detrimental impacts on normal growth and development.
Mary Eggington/Ava Mishra
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At least 0.5 ml blood in a heparin (orange top) tube.
Collect whole blood specimen prior to any blood transfusion.
For the diagnosis of GALT deficiency. Other forms of galactosaemia are not detected.