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 of urine (preferably early morning but random is acceptable). Store and transport frozen.
For the diagnosis of peroxisomal disorders, bile acid biosynthetic defects, CTX.