Overview

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.

Category

Cost

$20

Reporting time

1 day

Contacts

Mary Eggington/Ava Mishra

Phone: (03) 8341 6355

Specimen Requirements

At least 5 ml urine, place in freezer within 30 minutes of collection. Store and transport frozen.

Notes

Diagnosis of sulphite oxidase and molybdenum co-factor deficiencies. NB: urine screening for S-sulphocysteine (part of metabolic screen) is preferable.