In 2011, Bailey and colleagues described 3 individuals with two different mutations in SLC1A1gene leading to a complete loss of function. Proband 1 was a 44-year man who presented with kidney stones at the age of 20 and was diagnosed with dicarboxylic aminoaciduria by urinary analysis. His brother also presented with kidney stones at age 20 and was diagnosed with dicarboxylic aminoaciduria by urinary analysis at age 40. Proband 1 admitted to life-long behaviour suggestive of obsessive-compulsive traits, however a formal assessment for OCD could not be completed. The second proband was a 4-year-old girl of French-Canadian descent who was diagnosed at birth as part of a neonatal urinary screening program. Urinary diagnosis for dicarboxylic aminoaciduria was confirmed at 4 years of age.
In 2013, Myles-Worsley and colleagues described a heterozygous deletion encompassing the promotor region and exon 1 of SLC1A1in 7 affected individuals in a 5-generation Palauan family. The adults with the SLC1A1deletion were diagnosed with schizophrenia, and the 2 adolescents were diagnosed with early psychosis/prodromal schizophrenia.
In 2019, Doan and colleagues described an autistic individual from Germany who inherited a homozygous mutation from heterozygous parents. No further clinical details were available for this individual.
SLC1A1