SLC1A4 Deficiency

SLC1A4 is the disease-causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity, and thin corpus callosum. SLC1A4 disruption may impair brain development and function by decreasing the levels of L-serine in neurons.

 Slc1a4 deficiency is hereditary in the Ashkenazi community with 1 in 144 being carriers. Testing for this disease began in 2015. Children with slc1a4 deficiency have server global developmental delays and do not achieve independent walking or talking. The children are generally healthy and happy. They crave emotional connection but are severely learning disabled. 

It is recommended that children and adults with these symptoms go through genetic testing since family members are more of a chance of being carriers. By diagnosing more cases, there is more of a chance of finding a treatment for this neurometabolic disease.

For more info:

 http://slc1a4.com/ http://www.hadassah.org.il/media/3594767/J_Med_Genet_2015_Damseh_541_7.pdf 

or call  (USA) 347-742-6604