Serine Quantitative Plasma Test

This test measures the level of serine present in blood plasma.

• To diagnose metabolic disorders that affect serine metabolism
• To monitor the treatment of patients with metabolic disorders
• To assess cognitive defects or neurological conditions
• To identify whether serine supplementation is necessary

This test may be recommended if

• your physician suspects that you have an inborn error of metabolism
• you have neurological conditions
• you have developmental/cognitive delays

Abnormal levels may be indicative of several disorders such as neurological conditions or metabolic disorders or inborn errors of metabolism.

For this test, a small amount of blood will be drawn from your vein. It will then be sent to the laboratory for analysis.

• Inform your doctor of any medications or supplements you are taking as they may affect test results.
• Consult your doctor for any specific requirements.

• Urine organic acid analysis: To identify organic acids in the sample
• Genetic testing: To identify any genetic mutations responsible for metabolic disorders
• Amino acid analysis: To evaluate the levels of other amino acids in the blood

Serine Quantitative test, Quantitative serine measurement, or Serine concentration test

1. Serine deficiency disorders: Serine deficiency can lead to developmental delays, seizures, intellectual disability, and other neurological symptoms.
2. 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency: This is a rare metabolic disorder that affects the enzyme 3-PGDH, which is involved in the conversion of 3-phosphoglycerate to serine. Deficiency of this enzyme leads to reduced serine production and can cause neurological abnormalities, intellectual disability, and seizures.
3. Phosphoserine aminotransferase (PSAT) deficiency: Deficiency of PSAT leads to impaired serine production and can result in neurological symptoms, developmental delays, and intellectual disability.
4. Neu-Laxova syndrome: This is a severe genetic disorder characterized by multiple malformations and developmental abnormalities. It has been associated with mutations in genes involved in serine biosynthesis, resulting in impaired serine production and utilization.

Glycine encephalopathy (non-ketotic hyperglycinemia): Glycine is synthesized from serine, and defects in enzymes involved in glycine metabolism can impact serine levels and its downstream effects.