PSPH deficiency

3-Phosphoserine phosphatase deficiency is an extremely rare condition that affects the body's use of the amino acid serine. In the single reported case, the condition was associated with Williams syndrome and presented with congenital microcephaly (a smaller than average head size) and severe delays in motor and mental development. Because only one case has been documented so far, information about the range and variability of the condition is very limited. People with this condition have been reported to experience significant challenges from birth, though more research is needed to fully understand how the condition might vary among others.

In the reported case, symptoms included congenital microcephaly and severe psychomotor retardation. Since this condition is extremely rare, detailed information about the full range of symptoms is not available.

PSPH deficiency is linked to problems in the PSPH gene, which plays a role in the body’s processing of serine. The exact way this gene change leads to the symptoms observed in the condition is not yet fully understood. This condition has been associated with Williams syndrome in the reported case, but more research is needed to clarify the genetic and molecular causes.

Information about treatment options and management is currently limited for this condition.

Information about the long-term outlook and quality of life is currently limited for this condition.

Information about current research and future directions for this condition is currently limited.