Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder

Abstract

The aim of this study was to evaluate development in individuals with SLC13A5 citrate transporter disorder, a rare genetic condition which leads to epilepsy and developmental delay.

This disorder is marked by a heavy seizure burden in the first year of life. The authors looked at development using standardized assessments in the natural history of this condition.

The results showed severe global developmental disability with significant motor impairment and relative strength in social skills and receptive language. Variable quality of life outcomes were noted. We could not establish a strong genotype–phenotype correlation. There was evidence of modest developmental gains in early childhood, plateauing during adolescence and adulthood.