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

$150

Reporting time

21 days

Contacts

Phone: 1300 11 8247
Email: [email protected]

Specimen Requirements

At least 5 ml of urine, store and transport frozen

Notes

Diagnosis of pyridoxine-dependent seizures due to 2-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency.