Amino acid analysis is necessary for the diagnosis of a variety of inborn errors of metabolism. These include, but are not limited to, phenylketonuria, tyrosinemia, citrullinemia, non-ketotic hyperglycinemia, maple syrup urine disease, and homocystinuria. Cerebrospinal fluid (CSF) specimens are highly informative for a subset of these conditions, serine biosynthesis defects. CSF specimens are most informative when a plasma specimen is drawn at the same time and the ratio of the amino acid concentrations in CSF to plasma is calculated.
No special preparation is needed for Amino Acids Csf. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Amino Acids Csf. Your doctor depending on your condition will give specific instructions.
| Gender | Age groups | Value |
| UNISEX | All age groups | 3 - 19 micromol/L |
| UNISEX | All age groups | 25 - 105 micromol/L |