Urine amino acid analysis can be diagnostic for cystinuriaand and is an appropriate step in the investigation of suspected Hartnup disease, lysinuric protein intolerance, argininosuccinic aciduria and renal tubule defects such as Fanconi syndrome. It is preferable to collect a sample for plasma amino acid analysis at the same time in order to exclude overflow aminoaciduria.
Failure to thrive, diarrhoea, osteoporosis, hypophosphataemia
Photodermatitis, cerebellar ataxia
|Reference ranges are age dependant, the appropriate range will be given with the test results.|
5 ml fresh random urine
A comprehensive metabolic evaluation also typically includes the analysis of plasma amino acids, urine organic acids and blood spot acylcarnitine profile. Depending on results of these studies, additional testing may also be warranted.
Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information.