Imperial Collage Healthcare

Amino acids (urine)

Test Background

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.

Clinical Indications


Failure to thrive, diarrhoea, osteoporosis, hypophosphataemia

Photodermatitis, cerebellar ataxia

Reference Range
Reference ranges are age dependant, the appropriate range will be given with the test results.

Sample Required
Random urine

Sample Volume
5 ml fresh random urine

Turnaround Time
7 weeks

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.

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