Argininemia, Homocystinuria, Maple syrup urine disease, Phenylketonuria (PKU)
Amino Acid Analysis, CSF
Amino Acid Analysis, CSF
This test quantitively measures amino acid in cerebrospinal fluid (CSF) to detect abnormalities associated with inborn errors of metabolism such as amino acidurias. Disturbances of amino acid metabolism may be suspected in infants or children who have feeding abnormalities, growth failure, development failure, seizures, unexplained acidosis (uncommon), elevated blood ammonia.
Clinical Information
Amino acids are components of all of the body’s proteins, both enzymatic and nonenzymatic. Any abnormality in the metabolism of amino acids may lead to intellectual disabilities or other problems. Treatments are available for some amino acid disorders which can help prevent the disabilities and other symptoms.
Technical Information
Amino acids are measured using an amino acid analyzer (ion exchange chromatography).
Specimen Requirements
Cerebrospinal fluid (CSF) is the sample type for this test. A minimum of 500 mL CSF should be sent for analysis.
Transport Instructions
CSF should be frozen after collection and shipped frozen, preferably on dry ice.
Associated Tests
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC