Neurometabolic disorder due to serine deficiency

Neurometabolic disorder due to serine deficiency is a rare inherited condition where the body cannot make enough of an amino acid called serine. Serine is a building block that the brain and nervous system need to develop and work properly. Without enough serine, the brain is unable to form certain fats (called sphingolipids) that are essential for healthy nerve cells. This disease is also sometimes called serine biosynthesis defect or, depending on the specific gene involved, conditions like 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, phosphoserine aminotransferase (PSAT) deficiency, or phosphoserine phosphatase (PSP) deficiency. The condition mainly affects the brain and nervous system. Babies and children with this disorder often have a very small head (microcephaly), severe intellectual disability, and seizures that are hard to control. Some children also have problems with movement and muscle tone. Because serine is needed throughout brain development, symptoms often appear early in life and can be quite serious if not treated. The good news is that treatment exists. Giving serine (and sometimes glycine) as a supplement can help replace what the body cannot make on its own. When treatment is started early — ideally before or shortly after birth — it can significantly reduce seizures and improve brain development. However, treatment started later in life may have more limited benefits. Regular monitoring by a team of specialists is important to manage symptoms and adjust treatment over time.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What is the best dose of serine and glycine for my child, and how often should it be given?,How will we know if the treatment is working, and what tests will be done to check?,Should other family members be tested for this condition, including future pregnancies?,Is prenatal treatment an option if we have another pregnancy?,What therapies (physical, speech, occupational) should my child start, and how soon?,Are there any clinical trials or research studies we could join?,What signs should prompt me to seek emergency care, and what should I tell emergency doctors about this condition?

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