What is Metabolic Screen - Urine Chromatography / Urine For Amino Acid Screening

Also known as : AA; Plasma amino acids; urine amino acids

Why get tested?

Testing is most commonly performed in children suspected of having an inborn error of amino acid metabolism (aminoacidopathy).

When to get tested?

Primary aminoacidopathies are inherited disorders resulting from a deficient enzyme or transport protein. Over 30 aminoacidopathies have been described in the medical literature. Symptoms range from relatively benign to severe. Possible clinical presentations include, intellectual disability, seizures, rapid breathing, poor feeding, failure to thrive and vomiting.

Sample required?

For plasma amino acids, a blood sample drawn from a vein in your arm, urine amino acids require a urine specimen.

Test preparation needed?

None

WHAT IS BEING TESTED?

Amino acids are the building blocks of proteins and form part of our diet. In order to break down or change (metabolise) the amino acids in our body, special proteins called enzymes are needed. If there is a change or mutation in the gene coding for an enzyme, the normal metabolism gets blocked and the amino acid builds up in the body and may be toxic. Plasma or urine amino acid testing separates and measures all the amino acids we make in our bodies or take in from our diet, to identify any changes which may indicate an inborn error of metabolism.

Is any test preparation needed to ensure the quality of the sample?

No test preparation is needed.