L-Serine deficiency is a rare, inherited, metabolic disorder of
L-serine biosynthesis. Children with L-serine deficiency present with congenital microcephaly, then go on to develop severe psychomotor retardation and intractable seizures. The outcome of treatment with oral
L-serine ranges from improvement of seizure control and well-being in older children to normal psychomotor development in a child who was diagnosed and treated
prenatally with L-serine.
Children with apparent neurological disorders are rarely, if ever, tested for a metabolic disorder and unlikely to be tested for
L-serine deficiency. It is likely that L-serine deficiency is grossly under-diagnosed. A major goal of the foundation is to educate doctors and parents about the importance of metabolic testing for
L-serine deficiency through a simple test of the child’s cerebral spinal
Children with L-serine deficiency can manifest the following symptoms, or the following terms might be used to describe their symptoms and signs: cerebral palsy,
epilepsy, seizures, epileptic encephalopathy , encephalopathy, cortical visual impairment (limited vision due to brain involvement rather than a primary eye disorder), cortical blindness, spastic quadriparesis (spasticity or stiffness and muscle weakness at the same time), infantile spasms, congenital microcephaly (small head size from birth), muscle weakness, hypotonia, poor head control, poor brain growth, white matter abnormalities (brain), spasticity, megaloblastic anemia, failure to thrive, reflux. In particular, the triad of congenital microcephaly, spastic quadriparesis (cerebral palsy) and seizures should be an important clue to test for this disorder.
We especially want to thank (alphabetically) Drs. Mark Korson, Marvin R. Natowicz, and Kathy Swoboda for their excellent support past, present, and future.