Organic Acids

Chemical Pathology

Urine organic acid analysis is indicated in the investigation and monitoring of inborn errors of metabolism.
Amino acid analysis can be requested on the same sample, although plasma is normally the preferred sample type for this except when investigating for sulphite oxidase deficiency, homocystinuria, or suspected renal transport defects including cystinuria and proximal renal tubular dysfunction.

5mL fresh, random (spot) urine sample, taken into 30mL Universal

The first urine sample of the day is preferred, however samples are best taken during the episode of metabolic crisis when results are more likely to reflect the cause of the episode
Avoid faecal or bacterial contamination
Collect before initiation of treatment or diet changes that may alter metabolite patterns.

Do not store. Send at ambient temperature immediately to the laboratory.

Relevant clinical details, including details of clinical presentation and any current medication or treatment.

Samples are sent for analysis at the North Bristol NHS Trust with a result expected back within 2 weeks.

Qualitative report with interpretative comment provided.

To learn more about organic acidaemias and inborn errors of metabolism visit metbionet