PSAT deficiency

Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome. In the two reported cases, people with this condition experienced small head size (acquired microcephaly), delayed physical and mental development (psychomotor retardation), difficult-to-control seizures, and increased muscle tone (hypertonia). Because this condition is so rare, the full range of its effects is not yet fully understood. The reported cases provide the primary insight into what this deficiency may involve, and more research may help clarify its features in the future.

The known symptoms in reported cases include acquired microcephaly (a smaller head size than expected for age), psychomotor retardation (delays in development of movement and cognitive skills), intractable seizures (seizures that are hard to control), and hypertonia (increased muscle tone).

PSAT deficiency is linked to changes in the PSAT1 gene. Mutations in this gene can disrupt the function of the enzyme needed for producing the amino acid serine. This enzyme defect is at the heart of the condition, leading to the observed clinical findings in the reported cases.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition. Given the rarity of PSAT deficiency, further studies are needed to better understand its causes, symptoms, and management.