This website provides information on patients with mutations in the SLC1A1 gene, including clinical data, molecular data, management and research options.

SLC1A1 encodes the glutamate/aspartate/cysteine transporter excitatory amino acid transporter 3 (EAAT3, also known as excitatory amino acid carrier 1 (EAAC1)). SLC1A1 is abundant in the brain but also in intestine, liver, skeletal muscle, heart, kidneys, ovary, and testis.

Dicarboxylic aminoaciduria:
SLC1A1 loss of function mutations have been found to cause dicarboxylic aminoaciduria that can be accompanied with kidney stones.

Neuropsychiatric manifestations:
One of the individuals in the first report of homozygous SLC1A1 loss of function variants in dicarboxylic aminoaciduria was reported to have symptoms suggesting obsessive-compulsive traits, but a formal assessment was not completed. In a 2019 study, a homozygous loss of function mutation in SLC1A1 was reported in an autistic individual from Germany; further clinical details were not available for this individual. Heterozygous deletions of SLC1A1 have been reported in one extended family where they were associated with psychotic disorders, including schizophrenia. Linkage of the chromosome 9p24 region containing SLC1A1 and association of several single nucleotide polymorphisms (SNPs) in SLC1A1 have been reported in autism and in early-onset OCD, with stronger findings in males for the latter. However, SLC1A1 has not been implicated by genome wide studies in autism, schizophrenia, or OCD to date.

This website was created to share and collect information about clinical data, molecular data, management and research options projects to gather more knowledge and provide better treatment of patients with mutations in the SLC1A1 gene.

Jeremy Veenstra-VanderWeele, MD, Columbia university, New York State Psychiatric Institute, New York, USA, Jeremy.Veenstra-VanderWeele@nyspi.columbia.edu

Muhammad O. Chohan, MD, Columbia university, New York State Psychiatric Institute, New York, USA, Muhammad.Chohan@nyspi.columbia.edu