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.
At least 5 ml urine, place in freezer within 30 minutes of collection. Store and transport frozen.
Diagnosis of sulphite oxidase and molybdenum co-factor deficiencies. NB: urine screening for S-sulphocysteine (part of metabolic screen) is preferable.