Organic Acid Profile in Cerebrospinal Fluid (CSF)

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms like developmental delays, seizures, muscle weakness, or neurological issues that could be linked to metabolic disorders. It’s also sometimes used in newborn screening or for patients with suspected inborn errors of metabolism.

What to Expect Before the Test

No special preparation is needed for this test. A healthcare professional will collect a small sample of cerebrospinal fluid using a procedure called a lumbar puncture (spinal tap). This involves inserting a needle into your lower back, and you may feel pressure or discomfort, but it usually doesn’t cause pain.

What the Test Results Mean

The test looks for unusual patterns of organic acids in your CSF. Elevated levels of certain acids may indicate conditions like mitochondrial disorders, organic acidemias, or other metabolic issues. Your results will be reviewed by a specialist to determine if further testing or treatment is needed.

Common Conditions This Test Helps Diagnose

This test can help identify conditions such as propionic acidemia, methylmalonic acidemia, or other inherited metabolic disorders that cause abnormal acid buildup. It may also be used to monitor treatment progress or check for complications in patients already diagnosed with these conditions.